RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
KL
klotho
ISO
RGD
PMID:9363890
RGD:10403047
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
susceptibility
ISO
DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410
RGD
PMID:8929952
RGD:1600291
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | ClinVar Annotator: match by term: CYP17A1-related condition
ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:3263289 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:19636199 PMID:20170344 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID:32784047 PMID:33753170 PMID:33819959 PMID:34483146 More...
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
COL5A1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
G
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3
ISO
ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM ClinVar
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10022457 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:26956191 PMID:27073926 PMID:27163392 PMID:27307783 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28617986 PMID:28739554 PMID:29397602 PMID:30668521 PMID:31589614 PMID:31614207 PMID:32297288 PMID:32372306 PMID:33468338 PMID:33516834 PMID:33742552 PMID:33984517 PMID:34009138 PMID:35432193 PMID:36110220 PMID:36154887 PMID:36606580 PMID:37741351 More...
NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
COLEC11
collectin subfamily member 11
ISO
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition
OMIM ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 3:131,226,941...131,254,555
Ensembl chr 3:131,226,956...131,254,553
G
MASP1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr13:124,938,469...125,028,440
Ensembl chr13:124,955,030...125,054,463
G
SLC26A2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FANCL
FA complementation group L
ISO
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324
MouseDO
NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
G
MRPS22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246354
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
G
TYRO3
TYRO3 protein tyrosine kinase
ISO
ClinVar Annotator: match by term: 46,XX disorder of sex development
ClinVar
NCBI chr 1:129,811,540...129,829,395
Ensembl chr 1:129,811,544...129,829,014
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ADAMTS16
ADAM metallopeptidase with thrombospondin type 1 motif 16
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr16:76,326,718...76,491,050
Ensembl chr16:76,326,721...76,491,003
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Male pseudohermaphroditism
ClinVar
PMID:25741868
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
G
INSR
insulin receptor
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
LRP2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: DSD incomplete virilization
ClinVar
PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047
NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
G
NR2F2
nuclear receptor subfamily 2 group F member 2
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,124...83,090,535
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
PMID:17694559 PMID:20887963 PMID:25741868 PMID:25989977 PMID:26260161 PMID:27899157 PMID:28492532 PMID:29265478 PMID:30425642 PMID:31513305 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
G
POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
G
SOX8
SRY-box transcription factor 8
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 3:40,825,151...40,830,085
Ensembl chr 3:40,825,157...40,830,736
G
SRCAP
Snf2 related CREBBP activator protein
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
PMID:28492532
NCBI chr 3:17,662,374...17,702,862
Ensembl chr 3:17,664,349...17,700,219
G
SRY
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
PMID:8353496 PMID:25741868 PMID:29378242
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SRY
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 1
OMIM ClinVar
PMID:25741868
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SOX9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 2
ClinVar OMIM
PMID:21208124 PMID:22051515
NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 4
OMIM ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR2F2
nuclear receptor subfamily 2 group F member 2
ISO
ClinVar Annotator: match by term: 46,xx sex reversal 5
OMIM ClinVar
PMID:25741868 PMID:27363585 PMID:29478779
NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,124...83,090,535
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MRPS22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
G
WNT4
Wnt family member 4
ISO
ClinVar Annotator: match by term: SERKAL syndrome | ClinVar Annotator: match by term: WNT4-related condition
OMIM ClinVar
PMID:18179883 PMID:25741868 PMID:28492532
NCBI chr 6:80,110,238...80,138,165
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DHH
desert hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM ClinVar
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868 PMID:33189935
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
G
DHH
desert hedgehog signaling molecule
susceptibility
ISO
DNA:missense mutation:exon ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
RGD ClinVar
PMID:11017805
RGD:1601053
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
G
DMRT1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868
NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10369247 PMID:11932325 PMID:15070943
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
SRY
sex determining region Y
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:2247151 PMID:8257986 PMID:27576690
RGD:1598780 RGD:1599179
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SRY
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 1
OMIM ClinVar
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7717397 PMID:7718558 PMID:7981695 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10670762 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:12919143 PMID:16510537 PMID:16675314 PMID:20528776 PMID:24003159 PMID:25741868 PMID:28492532 PMID:28787711 More...
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SOX9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 10
ClinVar OMIM
PMID:6620326 PMID:22051515 PMID:25604083
NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR0B1
nuclear receptor subfamily 0 group B member 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive
OMIM ClinVar
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 More...
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GATA4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar
PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 PMID:32992319 More...
NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
OMIM ClinVar
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:20887963 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:25989977 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:31852928 PMID:32738419 PMID:33202802 PMID:33351340 PMID:35432193 PMID:35690514 PMID:35935368 PMID:36572623 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:27899157 PMID:28492532 PMID:31962012 More...
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DMRT1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 4
ClinVar
PMID:25741868
NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CBX2
chromobox 2
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 5 | ClinVar Annotator: match by term: CBX2-related condition
OMIM ClinVar
PMID:19361780 PMID:25741868 PMID:28492532
NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MAP3K1
mitogen-activated protein kinase kinase kinase 1
ISO
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6
OMIM ClinVar
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 PMID:24135036 PMID:24497709 PMID:25326637 PMID:25383892 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28504475 PMID:30608580 PMID:30872814 PMID:32985417 More...
NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DHH
desert hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
OMIM ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9
OMIM ClinVar
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25107291 PMID:25741868 PMID:27899157 PMID:28166811 PMID:28492532 PMID:31962012 PMID:34008892 More...
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SRY
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related
ClinVar
PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 PMID:8257986 PMID:9450909 PMID:12793612 More...
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BMPR1B
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
OMIM ClinVar
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,653...124,759,406
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AP4M1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700
G
LARP7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868
NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
G
TAF6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
OMIM ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532
NCBI chr 3:8,017,675...8,026,982
Ensembl chr 3:8,017,675...8,026,888
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DCAF17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia
ClinVar
PMID:6876115 PMID:19026396 PMID:20507343 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25741868 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 More...
NCBI chr15:77,564,629...77,603,913
Ensembl chr15:77,564,646...77,603,620
G
METTL8
methyltransferase 8, tRNA N3-cytidine
ISO
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia
ClinVar
PMID:28492532
NCBI chr15:77,477,229...77,564,492
Ensembl chr15:77,477,231...77,525,714
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
susceptibility
ISO
ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
ClinVar OMIM
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1480178 PMID:1487249 PMID:1508223 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1631125 PMID:1720929 PMID:1750490 PMID:1752359 PMID:1775137 PMID:1779964 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7633398 PMID:7641413 PMID:7671849 PMID:7723794 PMID:7795646 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8224266 PMID:8325932 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8530589 PMID:8626869 PMID:8628719 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9302173 PMID:9328206 PMID:9332480 PMID:9360511 PMID:9463997 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9554754 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10022458 PMID:10092153 PMID:10221692 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10502786 PMID:10571951 PMID:10589774 PMID:10690872 PMID:10787411 PMID:10834333 PMID:10840043 PMID:10852459 PMID:10946887 PMID:10971094 PMID:11103816 PMID:11181525 PMID:11225909 PMID:11260228 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12644579 PMID:12705360 PMID:12843171 PMID:13680382 PMID:14701682 PMID:14974091 PMID:15109605 PMID:15266301 PMID:15531547 PMID:15541764 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16199547 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:16470553 PMID:16804045 PMID:17161333 PMID:17382127 PMID:17576681 PMID:17937062 PMID:17970778 PMID:18406699 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20056211 PMID:20150575 PMID:20305676 PMID:20493947 PMID:20671138 PMID:21520333 PMID:21645389 PMID:21710452 PMID:21962961 PMID:22334387 PMID:22403669 PMID:22412043 PMID:22995991 PMID:23106833 PMID:23637914 PMID:23774508 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24367986 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25299611 PMID:25326637 PMID:25433660 PMID:25500996 PMID:25613104 PMID:25640679 PMID:25674389 PMID:25740850 PMID:25741868 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27051040 PMID:27267075 PMID:27284311 PMID:27403927 PMID:27583472 PMID:27849622 PMID:27854360 PMID:27899157 PMID:27989800 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:28743543 PMID:28857053 PMID:28879700 PMID:28947719 PMID:29051026 PMID:29237170 PMID:29758562 PMID:29785970 PMID:30064134 PMID:30113450 PMID:30165367 PMID:30316867 PMID:30401990 PMID:30599484 PMID:30668521 PMID:30815925 PMID:31012339 PMID:31180159 PMID:31219235 PMID:31373714 PMID:31429517 PMID:31499074 PMID:31871297 PMID:32229106 PMID:32345305 PMID:32985417 PMID:33505695 PMID:33514065 PMID:33548461 PMID:33728612 PMID:33750429 PMID:33819955 PMID:33863387 PMID:34152287 PMID:34276780 PMID:34333495 PMID:34689141 PMID:35432193 PMID:35445939 PMID:35561789 PMID:35809576 PMID:36394509 PMID:36572623 PMID:37493574 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
ClinVar
PMID:28492532
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
G
FKBP4
FKBP prolyl isomerase 4
ISO
OMIM:300068
MouseDO
NCBI chr 5:67,314,010...67,321,628
Ensembl chr 5:67,313,480...67,322,028
G
KAT7
lysine acetyltransferase 7
ISO
protein:decreased expression:testes (human)
RGD
PMID:23707616
RGD:9681005
NCBI chr12:25,970,966...26,005,006
Ensembl chr12:25,970,962...26,008,302
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency
ClinVar
PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 PMID:22403669 PMID:22412043 PMID:23637914 PMID:25299611 PMID:25326637 PMID:25500996 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:27899157 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:30599484 PMID:31871297 PMID:35809576 PMID:36394509 PMID:36572623 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
CDC45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency
ClinVar
PMID:28492532
NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DHX37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC
OMIM ClinVar
PMID:25741868 PMID:26539891 PMID:28492532 PMID:30582406 PMID:31287541 PMID:31337883 PMID:31745530 PMID:37240737 More...
NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,211,579...28,242,435
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR5A2
nuclear receptor subfamily 5 group A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18628394
NCBI chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,865,364
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Gynecomastia, familial
ClinVar
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
CYP19A2
cytochrome P450 19A2
ISO
OMIM:139300
MouseDO
NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
G
CYP19A3
cytochrome P450 19A3
ISO
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: CYP19A1-related condition | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency
OMIM ClinVar
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:21521281 PMID:23329769 PMID:25088806 PMID:25264451 PMID:25301327 PMID:25415177 PMID:25741868 PMID:26822949 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 PMID:29324451 PMID:30968679 PMID:33108086 More...
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
G
GLDN
gliomedin
ISO
ClinVar Annotator: match by term: Aromatase deficiency
ClinVar
PMID:25741868
NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BCL2L2
BCL2 like 2
ISO
RGD
PMID:9500547
RGD:734642
NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763
G
BRCA2
BRCA2 DNA repair associated
ISO
RGD
PMID:12754522
RGD:727990
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FBLN1
fibulin 1
ISO
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects
ClinVar
PMID:24084572
NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CPE
carboxypeptidase E
ISO
ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition
OMIM ClinVar
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395
NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FOXL2
forkhead box L2
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PHF6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders | ClinVar Annotator: match by term: PHF6-related condition
OMIM ClinVar
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26467025 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36008597 PMID:36999477 More...
NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
IGF1
insulin like growth factor 1
ISO
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
ClinVar
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
G
MCOLN1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
OMIM ClinVar
PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 PMID:36825042 PMID:38735647 More...
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SOX9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal
ClinVar
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DLK1
delta like non-canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Central precocious puberty
ClinVar
NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Central precocious puberty 1 | ClinVar Annotator: match by term: KISS1R-related condition
OMIM ClinVar
PMID:14573733 PMID:17164310 PMID:17700012 PMID:18272894 PMID:23349759 PMID:25741868 PMID:26199944 PMID:26467025 PMID:28492532 PMID:31073722 PMID:32171629 PMID:35729303 PMID:36123965 More...
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MKRN3
makorin ring finger protein 3
ISO
ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2
OMIM ClinVar
PMID:23738509 PMID:25741868 PMID:26431553 PMID:28492532 PMID:28672280
NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HHAT
hedgehog acyltransferase
ISO
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: HHAT-related condition
OMIM ClinVar
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300
NCBI chr 9:132,346,407...132,668,067
Ensembl chr 9:132,347,037...132,666,873
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Complete androgen insensitivity syndrome
ClinVar
PMID:25741868
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AVPR1A
vasopressin receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 5:27,824,991...27,832,794
Ensembl chr 5:27,824,992...27,832,703
G
AVPR2
vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr X:124,638,433...124,640,969
Ensembl chr X:124,638,523...124,640,966
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
DNA:splice-site mutation
RGD
PMID:12161514
RGD:1599693
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8245018 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16176874 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:19454579 PMID:19636199 PMID:20170344 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25741868 PMID:26543560 PMID:27426448 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:31388123 PMID:31636948 PMID:32985417 PMID:33516834 PMID:33761789 PMID:33864926 PMID:34483146 PMID:34524979 PMID:34829455 PMID:35032013 PMID:35043964 PMID:35178494 PMID:35561789 PMID:35729303 PMID:35990289 PMID:39020240 More...
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
G
CYP21A1
cytochrome P450 family 21 subfamily A member 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
ClinVar
PMID:1406699 PMID:1406709 PMID:1496017 PMID:1644925 PMID:1864962 PMID:1869518 PMID:1937474 PMID:1985465 PMID:2249999 PMID:2303461 PMID:2325662 PMID:2788081 PMID:2845408 PMID:3038528 PMID:3257825 PMID:3260007 PMID:3267225 PMID:5804199 PMID:7096533 PMID:7635470 PMID:7749410 PMID:8034294 PMID:8081391 PMID:8112748 PMID:8175971 PMID:8698338 PMID:8741909 PMID:8968761 PMID:8989258 PMID:9215318 PMID:9378109 PMID:9385370 PMID:9518489 PMID:9661649 PMID:10323382 PMID:10364682 PMID:10408786 PMID:10427156 PMID:10471376 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:11232002 PMID:11600539 PMID:12038604 PMID:12050257 PMID:12213891 PMID:12220458 PMID:12222711 PMID:12384784 PMID:12788866 PMID:12788880 PMID:12887291 PMID:12915679 PMID:14513879 PMID:14715874 PMID:15483094 PMID:15623806 PMID:15670187 PMID:15858147 PMID:15994751 PMID:16075929 PMID:16430727 PMID:17042033 PMID:17164306 PMID:17275379 PMID:17666484 PMID:18039588 PMID:18319307 PMID:18381579 PMID:19208730 PMID:19420818 PMID:19449670 PMID:19750867 PMID:19773403 PMID:20080860 PMID:20301350 PMID:20587039 PMID:20661889 PMID:20926536 PMID:20970527 PMID:21098686 PMID:21117955 PMID:21228398 PMID:21274396 PMID:21444649 PMID:21532487 PMID:21609351 PMID:21635882 PMID:21646730 PMID:21843885 PMID:22017335 PMID:22156666 PMID:22270556 PMID:23073904 PMID:23142378 PMID:23269230 PMID:23337727 PMID:23359698 PMID:23359706 PMID:23769969 PMID:23926370 PMID:23927611 PMID:23936690 PMID:24033266 PMID:24312389 PMID:24503005 PMID:24622265 PMID:24667412 PMID:24671123 PMID:24904866 PMID:24953648 PMID:25041270 PMID:25227725 PMID:25353971 PMID:25356970 PMID:25481255 PMID:25501839 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26172259 PMID:26206692 PMID:26209023 PMID:26278268 PMID:26291314 PMID:26467025 PMID:26804566 PMID:26985347 PMID:27041116 PMID:27785393 PMID:27896104 PMID:27966633 PMID:28161392 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29035424 PMID:29386111 PMID:29412390 PMID:29450859 PMID:29525066 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30487145 PMID:30609409 PMID:30611409 PMID:30656636 PMID:30811025 PMID:30816000 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31333583 PMID:31344365 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31605362 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32442933 PMID:32614782 PMID:32616876 PMID:32647925 PMID:32659761 PMID:32714392 PMID:32903448 PMID:32959514 PMID:32965796 PMID:32966723 PMID:33083013 PMID:33240318 PMID:33552137 PMID:33604243 PMID:33710594 PMID:33715135 PMID:33864926 PMID:34171085 PMID:34355878 PMID:34540367 PMID:35008721 PMID:35309130 PMID:35355919 PMID:35714169 PMID:35882282 PMID:36167262 PMID:36278220 PMID:36325983 PMID:36726778 PMID:36866166 PMID:37699373 More...
NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370
G
HTR4
5-hydroxytryptamine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 2:149,768,295...149,813,801
Ensembl chr 2:149,731,034...149,912,495
G
PDE8B
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18272904
NCBI chr 2:86,007,190...86,323,796
Ensembl chr 2:85,949,174...86,323,795
G
POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:31888681 PMID:33864926 PMID:34009138 More...
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
G
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373
G
REN
renin
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31505456
RGD:125097501
NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
G
STAR
steroidogenic acute regulatory protein
susceptibility
ISO
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
RGD ClinVar
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 More...
RGD:1600070
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
G
TNXB
tenascin XB
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23142378 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP11B2
cytochrome P450 family 11 subfamily B member 2
ISO
ClinVar Annotator: match by term: P450c11b1 deficiency
ClinVar
PMID:11549691
NCBI chr 4:1,365,725...1,373,138
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 PMID:30620006 More...
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: CYP21 deficiency
ClinVar
PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 PMID:27426448 PMID:28492532 PMID:34483146 More...
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
G
CYP19A3
cytochrome P450 19A3
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
G
CYP21A1
cytochrome P450 family 21 subfamily A member 1
ISO
ClinVar Annotator: match by term: CYP21A2-related condition | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OMIM ClinVar
PMID:1406699 PMID:1406709 PMID:1496017 PMID:1644925 PMID:1864962 PMID:1869518 PMID:1937474 PMID:1985465 PMID:2072928 PMID:2249999 PMID:2303461 PMID:2325662 PMID:2620669 PMID:2788081 PMID:2827462 PMID:2845408 PMID:3038528 PMID:3257825 PMID:3260007 PMID:3260033 PMID:3267225 PMID:5804199 PMID:7096533 PMID:7635470 PMID:7749410 PMID:8034294 PMID:8081391 PMID:8112748 PMID:8175971 PMID:8478006 PMID:8518786 PMID:8698338 PMID:8731325 PMID:8741909 PMID:8968761 PMID:8989258 PMID:9067760 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:9385370 PMID:9497336 PMID:9518489 PMID:9661649 PMID:9799085 PMID:10082937 PMID:10229037 PMID:10323382 PMID:10364682 PMID:10408786 PMID:10443693 PMID:10496074 PMID:10720040 PMID:10790214 PMID:10792340 PMID:10857554 PMID:10908170 PMID:10931088 PMID:11093272 PMID:11220701 PMID:11232002 PMID:11598371 PMID:11600539 PMID:11739456 PMID:12038604 PMID:12050231 PMID:12050257 PMID:12213891 PMID:12220458 PMID:12222711 PMID:12384784 PMID:12788866 PMID:12788880 PMID:12887291 PMID:12915679 PMID:12966197 PMID:14502362 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15126570 PMID:15483094 PMID:15623806 PMID:15670187 PMID:15858147 PMID:15994751 PMID:16075929 PMID:16427797 PMID:16430727 PMID:16483186 PMID:16487445 PMID:16728546 PMID:16788163 PMID:16793961 PMID:17042033 PMID:17119906 PMID:17164306 PMID:17275379 PMID:17598208 PMID:17666484 PMID:17803691 PMID:18039588 PMID:18319307 PMID:18381579 PMID:18445671 PMID:18478071 PMID:18702679 PMID:19058224 PMID:19169499 PMID:19208730 PMID:19263525 PMID:19347184 PMID:19420818 PMID:19449670 PMID:19501079 PMID:19505723 PMID:19531083 PMID:19624807 PMID:19750867 PMID:19773403 PMID:19778530 PMID:19856253 PMID:19961824 PMID:20080860 PMID:20233785 PMID:20301350 PMID:20587039 PMID:20661889 PMID:20818501 PMID:20838032 PMID:20926536 PMID:20970527 PMID:21098686 PMID:21117955 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21274396 PMID:21329531 PMID:21444649 PMID:21521936 PMID:21532487 PMID:21534945 PMID:21609351 PMID:21635882 PMID:21646284 PMID:21646730 PMID:21750395 PMID:21843885 PMID:22017335 PMID:22156666 PMID:22262854 PMID:22270556 PMID:22313422 PMID:22629504 PMID:22841790 PMID:22985688 PMID:23073904 PMID:23142378 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23322511 PMID:23337727 PMID:23342490 PMID:23359698 PMID:23359706 PMID:23570880 PMID:23769969 PMID:23926370 PMID:23927611 PMID:23936690 PMID:24033266 PMID:24071710 PMID:24077358 PMID:24196000 PMID:24225272 PMID:24312389 PMID:24503005 PMID:24622265 PMID:24667412 PMID:24671123 PMID:24778650 PMID:24799024 PMID:24904866 PMID:24953648 PMID:25041270 PMID:25087612 PMID:25121463 PMID:25195868 PMID:25227725 PMID:25353971 PMID:25356970 PMID:25481255 PMID:25501839 PMID:25525159 PMID:25538881 PMID:25553759 PMID:25630015 PMID:25741868 PMID:25855791 PMID:26172259 PMID:26184415 PMID:26206692 PMID:26209023 PMID:26278268 PMID:26291314 PMID:26300845 PMID:26425475 PMID:26467025 PMID:26804566 PMID:26985347 PMID:27041116 PMID:27082632 PMID:27185867 PMID:27596083 PMID:27721825 PMID:27785393 PMID:27890570 PMID:27896104 PMID:27966633 PMID:28161392 PMID:28275658 PMID:28392195 PMID:28401898 PMID:28487735 PMID:28492532 PMID:28539365 PMID:28644547 PMID:28676275 PMID:28741757 PMID:28819757 PMID:29035424 PMID:29074860 PMID:29266270 PMID:29328376 PMID:29386111 PMID:29412390 PMID:29450859 PMID:29525066 PMID:29684512 PMID:29715434 PMID:29892641 PMID:29996815 PMID:30048636 PMID:30419250 PMID:30487145 PMID:30609409 PMID:30611409 PMID:30656636 PMID:30811025 PMID:30816000 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31333583 PMID:31344365 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31605362 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32236851 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32442933 PMID:32614782 PMID:32616876 PMID:32647925 PMID:32659761 PMID:32714392 PMID:32838438 PMID:32903448 PMID:32959514 PMID:32965796 PMID:32966723 PMID:33017824 PMID:33083013 PMID:33240318 PMID:33552137 PMID:33604243 PMID:33666875 PMID:33710594 PMID:33715135 PMID:33809035 PMID:33864926 PMID:34171085 PMID:34355878 PMID:34540367 PMID:34718183 PMID:34821488 PMID:35079965 PMID:35094236 PMID:35112591 PMID:35309130 PMID:35355919 PMID:35714169 PMID:35882282 PMID:36167262 PMID:36325983 PMID:36341008 PMID:36726778 PMID:36873089 PMID:37011374 PMID:37699373 PMID:37822034 More...
NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370
G
IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784
G
IGFBP3
insulin like growth factor binding protein 3
ISO
protein:increased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
G
MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31660093 PMID:33471991 PMID:34326862 PMID:36672847 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
G
POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 PMID:28492532 PMID:33666875 More...
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
G
TNXB
tenascin XB
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23142378 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32838438 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33604243 PMID:33710594 PMID:33715135 PMID:34540367 PMID:37011374 More...
NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
OMIM ClinVar
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:6976525 PMID:8027220 PMID:8245018 PMID:8287576 PMID:8345056 PMID:8396144 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9888582 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16176874 PMID:16199547 PMID:16477341 PMID:16483711 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17285537 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21550081 PMID:21822006 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:24593890 PMID:25697092 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30002216 PMID:30229581 PMID:31388123 PMID:31636948 PMID:31885295 PMID:32215889 PMID:32561571 PMID:32784047 PMID:32985417 PMID:33516834 PMID:33753170 PMID:33761789 PMID:33780934 PMID:33864926 PMID:34097983 PMID:34483146 PMID:34524979 PMID:34724156 PMID:34829455 PMID:35032013 PMID:35043964 PMID:35561789 PMID:35729303 PMID:35810428 PMID:35990289 PMID:39020240 More...
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY
OMIM ClinVar
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
H6PD
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism DNA:point mutation:CDS:p.R453Q (human)
CTD RGD
PMID:12858176
RGD:1625067
NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298
G
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12858176 PMID:25526675
RGD:1625067
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
H6PD
hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition
OMIM ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16356929 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,601...69,700,298
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 | ClinVar Annotator: match by term: HSD11B1-related condition
OMIM ClinVar
PMID:21325058 PMID:25741868 PMID:28492532
NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
G
ADAMTS16
ADAM metallopeptidase with thrombospondin type 1 motif 16
ISO
RGD
PMID:24983376 PMID:32037220
RGD:13434925 RGD:38548917
NCBI chr16:76,326,718...76,491,050
Ensembl chr16:76,326,721...76,491,003
G
ANXA5
annexin A5
ISO
protein:increased expression: seminiferous tubulle
RGD
PMID:19376566
RGD:10053693
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
G
AR
androgen receptor
ISO
DNA:repeats:exon
RGD
PMID:15472213 PMID:15757859
RGD:11576231 RGD:1578685
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
ATRX
ATRX chromatin remodeler
ISO
ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
G
BCL2L1
BCL2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26050606
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
G
BTD
biotinidase
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,959,846
G
CASP3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:26050606 PMID:29606031
RGD:13792609
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
G
CBL
Cbl proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694012
NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
G
CFTR
CF transmembrane conductance regulator
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
G
CHRM3
cholinergic receptor muscarinic 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077972
NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,231...51,830,003
G
ESR1
estrogen receptor 1
ISO
mRNA:decreased expression:testis
RGD
PMID:20951417
RGD:8553220
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
G
FAS
Fas cell surface death receptor
ISO
RGD
PMID:29606031
RGD:13792609
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
GFER
growth factor, augmenter of liver regeneration
ISO
protein:decreased expression:male germ cell:
RGD
PMID:17918708
RGD:9685739
NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
G
GPX4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26050606
NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931
G
HOXD13
homeobox D13
ISO
DNA:splice-site mutation:exon:180A>G (human)
RGD
PMID:17216618
RGD:12743597
NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944
G
HSF1
heat shock transcription factor 1
ISO
protein:increased expression:testis, spermatocyte, nucleus (rat)
RGD
PMID:21480429
RGD:10402945
NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473
G
HTRA2
HtrA serine peptidase 2
ISO
RGD
PMID:16563141
RGD:10402928
NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
G
IGF1R
insulin like growth factor 1 receptor
ISO
protein:decreased expression:testis (rat)
RGD
PMID:7473418
RGD:12904727
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
G
INSL3
insulin like 3
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
OMIM ClinVar
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:25741868
NCBI chr 2:59,929,591...59,931,220
Ensembl chr 2:59,929,584...59,931,219
G
KAT6B
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868
NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
G
KDM5A
lysine demethylase 5A
ISO
mRNA:increased expression:testes (rat)
RGD
PMID:24679876
RGD:9588526
NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
G
KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
LSM1
LSM1 homolog, mRNA degradation associated
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868 PMID:31010896
NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106
G
MEFV
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11528510 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16627024 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:20301405 PMID:21290976 PMID:21600797 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23164758 PMID:23325590 PMID:23334425 PMID:23867542 PMID:23907647 PMID:24117178 PMID:24318677 PMID:24369413 PMID:25203624 PMID:25741868 PMID:26247045 PMID:26554556 PMID:26620106 PMID:27030597 PMID:27838405 PMID:28421071 PMID:28492532 PMID:29178647 PMID:29260407 PMID:29393966 PMID:29599418 PMID:29927949 PMID:30171907 PMID:31088470 PMID:31411330 PMID:33223529 More...
NCBI chr 3:38,934,573...38,948,609
G
MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr 6:95,738,961...95,753,245
Ensembl chr 6:95,738,969...95,753,245
G
MSX1
msh homeobox 1
ISO
RGD
PMID:18222913
RGD:5132606
NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
G
NFKBIA
NFKB inhibitor alpha
ISO
protein:decreased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
G
NGF
nerve growth factor
ISO
mRNA,protein:decreased expression:testis
RGD
PMID:22490502
RGD:402463952
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
G
NIPBL
NIPBL cohesin loading factor
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868
NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821
G
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:25741868
NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
G
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
G
RXFP2
relaxin family peptide receptor 2
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868
NCBI chr11:8,266,898...8,321,021
Ensembl chr11:8,282,517...8,321,020
G
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868 PMID:28067909
NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335
G
SOX3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578
G
STS
steroid sulfatase
ISO
protein:increased expression:scrotum, testis
RGD
PMID:2576297
RGD:1601402
NCBI chr X:3,926,027...4,076,900 NCBI chr Y:2,747,102...2,828,322
G
SYNE2
spectrin repeat containing nuclear envelope protein 2
ISO
DNA:deletion:exon:
RGD
PMID:26502805
RGD:12911229
NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354
G
SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235
NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
G
TMCO1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
G
TUBA1A
tubulin alpha 1a
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 More...
NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BRAT1
BRCA1 associated ATM activator 1
ISO
ClinVar Annotator: match by term: DBP deficiency
ClinVar
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532
NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
G
C3
complement C3
ISO
ClinVar Annotator: match by term: DBP deficiency
ClinVar
PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 PMID:29888403 More...
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
G
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
severity
ISO
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human)
OMIM ClinVar RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34534157 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:36939041 More...
RGD:10411884
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
ClinVar OMIM
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 PMID:34853308 PMID:38177409 More...
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 PMID:29758562 More...
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
G
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25462787
NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
G
CRH
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20002962
NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14762184 PMID:17726072
NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784
G
IL17RD
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
G
KISS1R
KISS1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527035
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229951
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15602022
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
G
SEMA3A
semaphorin 3A
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:25636053 PMID:28492532
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
G
TAC3
tachykinin precursor 3
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:25636053 PMID:28492532 PMID:29419413
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
G
TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:25636053
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
protein:decreased expression:sertoli cell
RGD
PMID:16245160
RGD:1643343
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
DNAJC24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:29,305,688...29,365,244
Ensembl chr 2:29,305,417...29,365,184
G
ELP4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077
G
IMMP1L
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:29,230,172...29,305,906
Ensembl chr 2:29,230,210...29,307,210
G
LOC100517025
uncharacterized LOC100517025
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:29,365,181...29,796,389
Ensembl chr 2:29,365,195...29,792,979
G
PAX6
paired box 6
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
G
RCN1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 2:28,696,528...28,714,083
Ensembl chr 2:28,696,661...28,709,672
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor
OMIM ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16439601 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18516627 PMID:18559874 PMID:18591546 PMID:18618575 PMID:18644976 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22815844 PMID:22876585 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26090994 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:34622098 PMID:34727091 PMID:35211794 PMID:35535697 PMID:35904974 PMID:36349777 PMID:36980135 PMID:38054408 PMID:38219185 More...
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FOXO3
forkhead box O3
ISO
OMIM:166950
MouseDO
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LMNA
lamin A/C
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy
OMIM ClinVar
PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11792809 PMID:11897440 PMID:12032588 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15965218 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:17150192 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19283854 PMID:19318026 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22883396 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24915601 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30595509 PMID:30739589 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31539150 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31931689 PMID:31977013 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32461654 PMID:32517491 PMID:32571898 PMID:32685188 PMID:32818388 PMID:32880476 PMID:32913962 PMID:32939435 PMID:33304817 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33887581 PMID:33893211 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36971006 PMID:37246508 PMID:37679847 More...
NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AKR1C1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25304492
NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
G
AMH
anti-Mullerian hormone
susceptibility
ISO
Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon
RGD
PMID:1483695
RGD:1601180
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
G
ATRX
ATRX chromatin remodeler
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
G
CBX2
chromobox 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
G
CCDC141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,905...84,734,182
G
DHH
desert hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
G
FGFR2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
G
FLNA
filamin A
ISO
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532 PMID:30675029 PMID:34858435 PMID:36110220
NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992
G
FLRT3
fibronectin leucine rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
G
FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
G
FREM2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532
NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,666...14,113,230
G
GHRHR
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
G
GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868
NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
G
GLI3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900
G
GPRC6A
G protein-coupled receptor class C group 6 member A
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 1:44,852,731...44,875,518
Ensembl chr 1:44,854,512...44,874,777
G
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22615892
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
MACROD2
mono-ADP ribosylhydrolase 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr17:22,635,105...24,686,846
Ensembl chr17:22,635,284...24,683,549
G
MAGEL2
MAGE family member L2
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 PMID:30302899 PMID:31152388 PMID:31680349 More...
NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
G
MAMLD1
mastermind like domain containing 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr X:122,120,275...122,233,692
Ensembl chr X:122,120,300...122,234,472
G
MAP3K1
mitogen-activated protein kinase kinase kinase 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
G
MYRF
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868
NCBI chr 2:9,761,230...9,795,873
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532 PMID:31513305 PMID:31852928 PMID:35432193 PMID:35935368 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
PLXNA3
plexin A3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
G
POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
G
PROK2
prokineticin 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
G
PROP1
PROP paired-like homeobox 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
G
RXFP2
relaxin family peptide receptor 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr11:8,266,898...8,321,021
Ensembl chr11:8,282,517...8,321,020
G
SOX4
SRY-box transcription factor 4
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752
G
SPRY4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
G
TBCE
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171
G
TGIF1
TGFB induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868
NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
G
WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:ovary
RGD
PMID:17988723
RGD:2315651
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
G
FGFR2
fibroblast growth factor receptor 2
ISO
associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2
RGD
PMID:17243131
RGD:2289660
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
G
INHA
inhibin subunit alpha
ISO
protein:increased expression:tumor
RGD
PMID:11720904
RGD:2290380
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11380399 PMID:11493470 PMID:16352739 PMID:19262599 PMID:19865100 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
POU5F1
POU class 5 homeobox 1
ISO
RGD
PMID:15371950
RGD:2292443
NCBI chr 7:23,564,654...23,570,691
G
SET
SET nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:26822237
NCBI chr 1:269,050,447...269,064,462
G
ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CCL2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:testis (rat)
RGD
PMID:14638441
RGD:1358455
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
G
HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
ISO
RGD
PMID:16092147
RGD:1624236
NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949
G
HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:16092147
RGD:1624236
NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526
G
INHA
inhibin subunit alpha
ISO
protein:decreased expression:serum:
RGD
PMID:11431143
RGD:8694089
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
G
SERPINA1
serpin family A member 1
ISO
protein:increased expression:serum
RGD
PMID:16092147
RGD:1624236
NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
INHA
inhibin subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16684832
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
G
INHBB
inhibin subunit beta B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16684832
NCBI chr15:30,999,994...31,004,405
Ensembl chr15:30,999,520...31,004,405
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity | ClinVar Annotator: match by term: LHCGR-related condition
OMIM ClinVar
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7629248 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8855841 PMID:8929952 PMID:8943222 PMID:9039330 PMID:9467560 PMID:9661624 PMID:9703386 PMID:9851790 PMID:10084607 PMID:11134146 PMID:11391350 PMID:11849253 PMID:11867621 PMID:12679452 PMID:16123233 PMID:16684832 PMID:16887451 PMID:17030087 PMID:17055147 PMID:17055151 PMID:21490077 PMID:23686864 PMID:23861372 PMID:23982246 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:27532428 PMID:28339861 PMID:28492532 PMID:29654692 PMID:30283825 PMID:31967000 More...
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Familial precocious puberty
ClinVar
PMID:25741868
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Familial ovarian carcinoma
ClinVar
PMID:25741868 PMID:33832919
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Frasier syndrome
OMIM ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16717397 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36349777 PMID:36980135 More...
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALX4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar OMIM
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532
NCBI chr 2:18,070,726...18,085,685
Ensembl chr 2:18,037,401...18,085,683
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CBX2
chromobox 2
no_association
ISO
RGD
PMID:23219007
RGD:9586730
NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
G
DMRT2
doublesex and mab-3 related transcription factor 2
ISO
ClinVar Annotator: match by term: Gonadal agenesis
ClinVar
PMID:25741868
NCBI chr 1:220,745,493...220,799,779
Ensembl chr 1:220,745,502...220,757,324
G
FMR1
Fragile X messenger ribonucleoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22043169
NCBI chr X:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis
ClinVar
PMID:10022448 PMID:22414334 PMID:28492532
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
G
NR5A1
nuclear receptor subfamily 5 group A member 1
treatment
ISO
RGD
PMID:16467257
RGD:12904919
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
TSPYL1
TSPY like 1
ISO
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800
RGD
PMID:15273283
RGD:1599672
NCBI chr 1:81,906,168...81,909,461
Ensembl chr 1:81,908,075...81,909,249
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis
ClinVar
PMID:25741868
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome
ClinVar
PMID:25741868
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
G
RNF216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition
OMIM ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AMH
anti-Mullerian hormone
disease_progression
ISO
RGD
PMID:19359032
RGD:2315639
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
G
BMP4
bone morphogenetic protein 4
ISO
mRNA:increased expression:ovary
RGD
PMID:16488995
RGD:1643593
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
G
CCND2
cyclin D2
ISO
mRNA:increased expression:ovary
RGD
PMID:11994539
RGD:2289157
NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
RGD
PMID:12203782
RGD:2296066
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
RGD
PMID:12203782
RGD:2296066
NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
G
CMKLR1
chemerin chemokine-like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29653259
NCBI chr14:42,420,166...42,468,080
Ensembl chr14:42,420,177...42,468,058
G
CTNNB1
catenin beta 1
ISO
RGD MouseDO
PMID:16488995
RGD:1643593
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
G
FANCF
FA complementation group F
susceptibility disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:15574200 PMID:21915857
RGD:11049141 RGD:2298508
NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
G
FHIT
fragile histidine triad diadenosine triphosphatase
ISO
DNA:hypermethylation:promoter, ovary
RGD
PMID:15574200
RGD:2298508
NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817
G
FSHR
follicle stimulating hormone receptor
ISO
mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)
RGD
PMID:11994539
RGD:2289157
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
G
GNAI2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Granulosa cell tumor, somatic
ClinVar
PMID:2116665
NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
mRNA:decreased expression:ovary
RGD
PMID:18028988
RGD:2302173
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861689
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05)
RGD
PMID:11994539 PMID:15967102
RGD:2289157 RGD:2302176
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:14970867
RGD:2317693
NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
G
PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)
RGD
PMID:11994539
RGD:2289157
NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)
RGD
PMID:11994539
RGD:2289157
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
G
RARRES2
retinoic acid receptor responder 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29653259
NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945
G
SGK1
serum/glucocorticoid regulated kinase 1
ISO
mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)
RGD
PMID:11994539
RGD:2289157
NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602
G
SMAD1
SMAD family member 1
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
G
SMAD5
SMAD family member 5
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr 2:138,287,635...138,344,092
Ensembl chr 2:138,287,710...138,344,762
G
ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
G
VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:19524286
RGD:2315463
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
WIF1
WNT inhibitory factor 1
ISO
mRNA:increased expression:ovary
RGD
PMID:16488995
RGD:1643593
NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GNAI2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Granulosa cell tumor of the ovary
ClinVar
PMID:2116665
NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LTBP3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
ClinVar
PMID:25741868 PMID:29625025
NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
G
SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
OMIM ClinVar
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:29891884 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35907855 PMID:35943490 PMID:36158166 PMID:36194927 PMID:38779990 More...
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7878608 PMID:9334596
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
A1CF
APOBEC1 complementation factor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:98,908,585...98,990,362
Ensembl chr14:98,908,630...98,987,524
G
ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 9:93,049,955...93,146,469
G
ABCC3
ATP binding cassette subfamily C member 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602
G
ABCG2A
ATP binding cassette subfamily G member 2A
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,775,444...130,945,393
G
ABRAXAS1
abraxas 1, BRCA1 A complex subunit
ISO
ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:32566746
NCBI chr 8:135,002,297...135,021,205
Ensembl chr 8:135,002,321...135,023,335
G
ACACA
acetyl-CoA carboxylase alpha
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712
G
ACBD4
acyl-CoA binding domain containing 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,271,835...18,281,639
Ensembl chr12:18,272,797...18,281,595
G
ACSF2
acyl-CoA synthetase family member 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,713,790...26,752,352
Ensembl chr12:26,713,785...26,761,140
G
ADAM11
ADAM metallopeptidase domain 11
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,575,716...18,597,415
Ensembl chr12:18,575,719...18,597,356
G
AKAP1
A-kinase anchoring protein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,396,473...33,410,395
Ensembl chr12:33,396,473...33,411,440
G
AMH
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
ANKFN1
ankyrin repeat and fibronectin type III domain containing 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:32,479,469...32,823,527
Ensembl chr12:32,321,340...32,821,340
G
ANKRD31
ankyrin repeat domain 31
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:84,148,363...84,320,823
Ensembl chr 2:84,149,358...84,366,190
G
ANKRD40
ankyrin repeat domain 40
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,978,213...26,995,760
Ensembl chr12:26,978,215...26,995,714
G
AOPEP
aminopeptidase O (putative)
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:32566746
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
G
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
G
ARF2
ADP-ribosylation factor 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,432,594...17,447,976
G
ARHGAP27
Rho GTPase activating protein 27
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,037,007...18,069,989
Ensembl chr12:18,037,138...18,082,348
G
ARL4D
ADP ribosylation factor like GTPase 4D
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859
NCBI chr12:19,649,379...19,651,366
Ensembl chr12:19,648,207...19,651,312
G
ASB16
ankyrin repeat and SOCS box containing 16
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,033,471...19,040,481
Ensembl chr12:19,033,482...19,040,221
G
ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1739330 PMID:1849795 PMID:2557216 PMID:2677459 PMID:3217261 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9043869 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9711876 PMID:9764584 PMID:9792409 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11516106 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072552 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14586414 PMID:14628072 PMID:14643952 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15629612 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16035317 PMID:16167060 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17876757 PMID:17910737 PMID:17968022 PMID:18164969 PMID:18261794 PMID:18384426 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:19018867 PMID:19081671 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19650357 PMID:19691550 PMID:19779456 PMID:19781682 PMID:19823873 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20308662 PMID:20346647 PMID:20544271 PMID:20678261 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20981092 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21910157 PMID:21933854 PMID:21965147 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22420423 PMID:22438227 PMID:22529920 PMID:22585167 PMID:22649200 PMID:22995991 PMID:23074045 PMID:23091097 PMID:23114601 PMID:23143971 PMID:23322442 PMID:23369113 PMID:23454770 PMID:23555315 PMID:23585524 PMID:23632773 PMID:23726790 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24113346 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24451234 PMID:24549055 PMID:24556621 PMID:24628946 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24951259 PMID:24954719 PMID:24983367 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25085752 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25148578 PMID:25182519 PMID:25186627 PMID:25257301 PMID:25318351 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25374739 PMID:25452441 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25741916 PMID:25742471 PMID:25749350 PMID:25862857 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26053404 PMID:26094658 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26182300 PMID:26206375 PMID:26207792 PMID:26220245 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26380989 PMID:26416026 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633545 PMID:26635394 PMID:26662178 PMID:26667234 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26787654 PMID:26822949 PMID:26837699 PMID:26854966 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27043212 PMID:27067391 PMID:27093186 PMID:27121310 PMID:27142713 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27224988 PMID:27365426 PMID:27375234 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27528516 PMID:27568332 PMID:27595995 PMID:27599564 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27692705 PMID:27720647 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:27994516 PMID:28007021 PMID:28008555 PMID:28093192 PMID:28093616 PMID:28126470 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28259476 PMID:28423360 PMID:28451460 PMID:28492532 PMID:28503720 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28617965 PMID:28652578 PMID:28717660 PMID:28726808 PMID:28743247 PMID:28767289 PMID:28779002 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29036293 PMID:29059438 PMID:29360161 PMID:29360550 PMID:29371908 PMID:29445900 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29506128 PMID:29522266 PMID:29596542 PMID:29597095 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29665859 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29758562 PMID:29778231 PMID:29905759 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30093976 PMID:30128536 PMID:30181556 PMID:30197789 PMID:30233647 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30413523 PMID:30425284 PMID:30426508 PMID:30447919 PMID:30504431 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30579816 PMID:30613976 PMID:30639167 PMID:30651582 PMID:30666157 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30836094 PMID:30851086 PMID:30883245 PMID:30938815 PMID:30957677 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31125277 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31285527 PMID:31350202 PMID:31360874 PMID:31382929 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31589614 PMID:31611883 PMID:31638252 PMID:31666926 PMID:31719806 PMID:31741144 PMID:31742824 PMID:31776720 PMID:31780696 PMID:31784482 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31874108 PMID:31882575 PMID:31920950 PMID:31942411 PMID:31948886 PMID:32019284 PMID:32039725 PMID:32052936 PMID:32068069 PMID:32091409 PMID:32113160 PMID:32125938 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32318955 PMID:32325837 PMID:32338768 PMID:32371905 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32659497 PMID:32748564 PMID:32756499 PMID:32782288 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32957588 PMID:32958592 PMID:32980694 PMID:32986223 PMID:33050356 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33168809 PMID:33181636 PMID:33191115 PMID:33206719 PMID:33240400 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33330270 PMID:33359728 PMID:33395407 PMID:33402103 PMID:33415580 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33471191 PMID:33471991 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33850299 PMID:33875564 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34009545 PMID:34107524 PMID:34117267 PMID:34130653 PMID:34199532 PMID:34204722 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34271781 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34426522 PMID:34445196 PMID:34489640 PMID:34570441 PMID:34573280 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34680878 PMID:34755017 PMID:34761457 PMID:34994613 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35085662 PMID:35098669 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35245693 PMID:35257272 PMID:35264596 PMID:35273153 PMID:35312250 PMID:35354106 PMID:35365198 PMID:35451682 PMID:35467778 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35666082 PMID:35708139 PMID:35716007 PMID:35717579 PMID:35734982 PMID:35763645 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35980532 PMID:36029002 PMID:36099812 PMID:36167400 PMID:36200007 PMID:36243179 PMID:36315919 PMID:36521553 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36674612 PMID:36685941 PMID:36704080 PMID:36898365 PMID:36988593 PMID:37088804 PMID:37091313 PMID:37097610 PMID:37262986 PMID:37306523 PMID:37436117 PMID:37529773 PMID:37762649 PMID:38017116 PMID:38028594 PMID:39085400 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
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ATP5MC1
ATP synthase membrane subunit c locus 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,110,540...25,113,481
Ensembl chr12:25,110,528...25,113,478
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ATP7B
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5
ClinVar
PMID:2409472 PMID:9311736 PMID:17264425 PMID:22692182 PMID:23235335 PMID:23518715 PMID:23551039 PMID:24094725 PMID:24475083 PMID:25376582 PMID:25741868 PMID:26207595 PMID:27022412 PMID:27122662 PMID:28492532 PMID:30120852 PMID:34400371 PMID:34470610 More...
NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
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ATXN7L3
ataxin 7 like 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,012,324...19,020,136
Ensembl chr12:19,012,743...19,018,789
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B4GALNT2
beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,368,234...25,410,021
G
BARD1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:1584056 PMID:2936742 PMID:9425226 PMID:9536098 PMID:11807980 PMID:12832489 PMID:14550946 PMID:15342711 PMID:15855157 PMID:15855896 PMID:16061562 PMID:16199547 PMID:16333312 PMID:16633366 PMID:16741161 PMID:16768547 PMID:16825437 PMID:17333333 PMID:17550235 PMID:17576681 PMID:17848578 PMID:17972171 PMID:18089818 PMID:18480049 PMID:18481171 PMID:19139070 PMID:19197335 PMID:19412175 PMID:19584272 PMID:20077502 PMID:20842729 PMID:21344236 PMID:21393566 PMID:22006311 PMID:23056176 PMID:23334666 PMID:23680151 PMID:24033266 PMID:24123366 PMID:24454733 PMID:24463508 PMID:25085752 PMID:25186627 PMID:25288723 PMID:25318351 PMID:25326637 PMID:25330149 PMID:25452441 PMID:25741868 PMID:25980754 PMID:25994375 PMID:26010302 PMID:26075229 PMID:26307947 PMID:26315354 PMID:26329992 PMID:26350354 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26546047 PMID:26556299 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26738429 PMID:26787654 PMID:26898890 PMID:26976419 PMID:26979391 PMID:26979419 PMID:27009842 PMID:27083178 PMID:27153395 PMID:27328445 PMID:27443514 PMID:27498913 PMID:27621404 PMID:27720647 PMID:27742771 PMID:27878467 PMID:27913932 PMID:27978560 PMID:27997549 PMID:28008555 PMID:28050010 PMID:28135145 PMID:28174632 PMID:28486781 PMID:28492532 PMID:28640387 PMID:28709830 PMID:28724667 PMID:28821472 PMID:28873162 PMID:28888541 PMID:28912018 PMID:29292755 PMID:29338689 PMID:29367421 PMID:29625052 PMID:29641532 PMID:29700634 PMID:29752822 PMID:29769598 PMID:29785153 PMID:29790872 PMID:29905759 PMID:29922827 PMID:30322717 PMID:30374176 PMID:30441849 PMID:30781715 PMID:30925164 PMID:30947698 PMID:30982232 PMID:31036035 PMID:31159747 PMID:31275557 PMID:31341520 PMID:31371347 PMID:31666926 PMID:31843900 PMID:31871109 PMID:32039725 PMID:32068069 PMID:32295079 PMID:32427313 PMID:32566746 PMID:32658311 PMID:32679805 PMID:32726901 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33479248 PMID:33498765 PMID:33552952 PMID:33598691 PMID:33606809 PMID:33809641 PMID:34034685 PMID:34196900 PMID:34250417 PMID:34326862 PMID:34646395 PMID:34680878 PMID:34754157 PMID:34906988 PMID:35264596 PMID:35595798 PMID:35734982 PMID:35768576 PMID:35957908 PMID:36988593 PMID:37239058 PMID:37563628 More...
NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851
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BCAR1
BCAR1 scaffold protein, Cas family member
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:12,369,332...12,404,822
Ensembl chr 6:12,367,758...12,404,818
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BCL2L1
BCL2 like 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
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BIRC6
baculoviral IAP repeat containing 6
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477
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BLM
BLM RecQ like helicase
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:7585968 PMID:9536098 PMID:16199547 PMID:17407155 PMID:17576681 PMID:23129629 PMID:23292937 PMID:23960188 PMID:24728327 PMID:24816114 PMID:25653542 PMID:25741868 PMID:26467025 PMID:26503572 PMID:26788541 PMID:28492532 PMID:28724667 PMID:28944238 PMID:29338689 PMID:29641532 PMID:30214240 PMID:30840646 PMID:31118792 PMID:31360874 PMID:32107087 PMID:32566746 PMID:32868804 PMID:35273153 PMID:35314707 More...
NCBI chr 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,645
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BMP15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
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BMPR2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32368696 PMID:36675162 More...
NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar OMIM
PMID:20 PMID:122156 PMID:125827 PMID:145597 PMID:202008 PMID:236858 PMID:275598 PMID:591403 PMID:734551 PMID:824983 PMID:953609 PMID:1157798 PMID:1245799 PMID:1474686 PMID:1514655 PMID:1673748 PMID:1882470 PMID:2010458 PMID:2144777 PMID:2152033 PMID:2152385 PMID:2173504 PMID:2206311 PMID:2246425 PMID:2316185 PMID:2482513 PMID:2504116 PMID:2505045 PMID:2618727 PMID:2668991 PMID:2975282 PMID:3175448 PMID:3347199 PMID:6455195 PMID:6681312 PMID:6848529 PMID:6852015 PMID:7221156 PMID:7257965 PMID:7493024 PMID:7545954 PMID:7581445 PMID:7606717 PMID:7611277 PMID:7627958 PMID:7663517 PMID:7680524 PMID:7791869 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894492 PMID:7894493 PMID:7939630 PMID:8460636 PMID:8460646 PMID:8531967 PMID:8531968 PMID:8533757 PMID:8554067 PMID:8571953 PMID:8595420 PMID:8595428 PMID:8602198 PMID:8606385 PMID:8622478 PMID:8644702 PMID:8644703 PMID:8644752 PMID:8651293 PMID:8723683 PMID:8751436 PMID:8755943 PMID:8764110 PMID:8776600 PMID:8807330 PMID:8808710 PMID:8833256 PMID:8840964 PMID:8841191 PMID:8872468 PMID:8875986 PMID:8880569 PMID:8933332 PMID:8942979 PMID:8944023 PMID:8956054 PMID:8968102 PMID:8968716 PMID:8972225 PMID:8990217 PMID:9010228 PMID:9041180 PMID:9042907 PMID:9042909 PMID:9063749 PMID:9143931 PMID:9145676 PMID:9145677 PMID:9145678 PMID:9150148 PMID:9150149 PMID:9150151 PMID:9150153 PMID:9150154 PMID:9150171 PMID:9150174 PMID:9159158 PMID:9167459 PMID:9192828 PMID:9197534 PMID:9200354 PMID:9254884 PMID:9274454 PMID:9285788 PMID:9291911 PMID:9326340 PMID:9333265 PMID:9354803 PMID:9361038 PMID:9362443 PMID:9369211 PMID:9391879 PMID:9406579 PMID:9429140 PMID:9440731 PMID:9452076 PMID:9452084 PMID:9482581 PMID:9497265 PMID:9510469 PMID:9523200 PMID:9525870 PMID:9528852 PMID:9536098 PMID:9544765 PMID:9544766 PMID:9563465 PMID:9585599 PMID:9585608 PMID:9585617 PMID:9609997 PMID:9616287 PMID:9625424 PMID:9634504 PMID:9643283 PMID:9649133 PMID:9663595 PMID:9664122 PMID:9665150 PMID:9667259 PMID:9667663 PMID:9677103 PMID:9699523 PMID:9699640 PMID:9714446 PMID:9715372 PMID:9738006 PMID:9746028 PMID:9760198 PMID:9788557 PMID:9792861 PMID:9796975 PMID:9799248 PMID:9805131 PMID:9808526 PMID:9816013 PMID:9836072 PMID:9836472 PMID:9840533 PMID:9915971 PMID:9927062 PMID:10090482 PMID:10090881 PMID:10188893 PMID:10196379 PMID:10200350 PMID:10227398 PMID:10323242 PMID:10326698 PMID:10340909 PMID:10359546 PMID:10371344 PMID:10389907 PMID:10406662 PMID:10408690 PMID:10417303 PMID:10422801 PMID:10435598 PMID:10435628 PMID:10441573 PMID:10447273 PMID:10453741 PMID:10459348 PMID:10464601 PMID:10464609 PMID:10464624 PMID:10464631 PMID:10469836 PMID:10479726 PMID:10480351 PMID:10480358 PMID:10486320 PMID:10498392 PMID:10502781 PMID:10505028 PMID:10508480 PMID:10528853 PMID:10550055 PMID:10571952 PMID:10595255 PMID:10595257 PMID:10612800 PMID:10612827 PMID:10615237 PMID:10634513 PMID:10635334 PMID:10644434 PMID:10660329 PMID:10667592 PMID:10667595 PMID:10682662 PMID:10682686 PMID:10686936 PMID:10699917 PMID:10717622 PMID:10728699 PMID:10728701 PMID:10737987 PMID:10739756 PMID:10755399 PMID:10788334 PMID:10790221 PMID:10800284 PMID:10804288 PMID:10811118 PMID:10815905 PMID:10827109 PMID:10851077 PMID:10862036 PMID:10866028 PMID:10866029 PMID:10874312 PMID:10880552 PMID:10882857 PMID:10882858 PMID:10885601 PMID:10918303 PMID:10918394 PMID:10923033 PMID:10946236 PMID:10951344 PMID:10952774 PMID:10952777 PMID:10978226 PMID:10980541 PMID:10984458 PMID:10995809 PMID:11013445 PMID:11015464 PMID:11016938 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11044644 PMID:11044645 PMID:11058900 PMID:11059339 PMID:11084537 PMID:11102977 PMID:11102978 PMID:11102986 PMID:11106241 PMID:11109172 PMID:11118466 PMID:11137998 PMID:11139249 PMID:11149413 PMID:11149425 PMID:11157798 PMID:11162473 PMID:11179017 PMID:11180604 PMID:11183185 PMID:11199332 PMID:11240689 PMID:11250694 PMID:11251181 PMID:11256609 PMID:11260866 PMID:11263928 PMID:11278247 PMID:11301010 PMID:11304778 PMID:11320250 PMID:11334729 PMID:11336395 PMID:11359908 PMID:11376024 PMID:11385711 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11410514 PMID:11424920 PMID:11428389 PMID:11431698 PMID:11433401 PMID:11436123 PMID:11437933 PMID:11448907 PMID:11462239 PMID:11462242 PMID:11463009 PMID:11466700 PMID:11493753 PMID:11504767 PMID:11506493 PMID:11526114 PMID:11556835 PMID:11573085 PMID:11573086 PMID:11576847 PMID:11595708 PMID:11597388 PMID:11606101 PMID:11668617 PMID:11695708 PMID:11698567 PMID:11710835 PMID:11710890 PMID:11720839 PMID:11733976 PMID:11739404 PMID:11748305 PMID:11748848 PMID:11773283 PMID:11781691 PMID:11793480 PMID:11802208 PMID:11802209 PMID:11810084 PMID:11844822 PMID:11857748 PMID:11873550 PMID:11877378 PMID:11880951 PMID:11896095 PMID:11897832 PMID:11916966 PMID:11920621 PMID:11925436 PMID:11927492 PMID:11929857 PMID:11933205 PMID:11938448 PMID:11941481 PMID:11949836 PMID:11956590 PMID:11972384 PMID:11979449 PMID:12007222 PMID:12014998 PMID:12019214 PMID:12034536 PMID:12036913 PMID:12037674 PMID:12048272 PMID:12060539 PMID:12068003 PMID:12070551 PMID:12080089 PMID:12097257 PMID:12100744 PMID:12112655 PMID:12112659 PMID:12124814 PMID:12125210 PMID:12142080 PMID:12161607 PMID:12161611 PMID:12170759 PMID:12181777 PMID:12183412 PMID:12188064 PMID:12203994 PMID:12203997 PMID:12204006 PMID:12212615 PMID:12215251 PMID:12354784 PMID:12354934 PMID:12360400 PMID:12360411 PMID:12385650 PMID:12393792 PMID:12400015 PMID:12402332 PMID:12402341 PMID:12427538 PMID:12427738 PMID:12442265 PMID:12442273 PMID:12442274 PMID:12442275 PMID:12453858 PMID:12457999 PMID:12491487 PMID:12491499 PMID:12496476 PMID:12496477 PMID:12497638 PMID:12505256 PMID:12531920 PMID:12566964 PMID:12585668 PMID:12599199 PMID:12601471 PMID:12602912 PMID:12624724 PMID:12655515 PMID:12655560 PMID:12670888 PMID:12672316 PMID:12673801 PMID:12698193 PMID:12700174 PMID:12700893 PMID:12732733 PMID:12752644 PMID:12759930 PMID:12771565 PMID:12774040 PMID:12774043 PMID:12810666 PMID:12815598 PMID:12815604 PMID:12827452 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PMID:29137355 PMID:29152070 PMID:29156836 PMID:29161300 PMID:29168416 PMID:29176636 PMID:29192238 PMID:29202330 PMID:29203703 PMID:29215753 PMID:29233532 PMID:29236234 PMID:29240602 PMID:29254167 PMID:29255180 PMID:29261187 PMID:29263802 PMID:29271107 PMID:29280214 PMID:29297111 PMID:29309945 PMID:29310340 PMID:29310832 PMID:29312738 PMID:29335924 PMID:29335925 PMID:29337092 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29409476 PMID:29416040 PMID:29422015 PMID:29433453 PMID:29435039 PMID:29435075 PMID:29440709 PMID:29446198 PMID:29452958 PMID:29453630 PMID:29458332 PMID:29467240 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29484706 PMID:29486991 PMID:29487695 PMID:29492181 PMID:29506128 PMID:29550896 PMID:29565420 PMID:29566657 PMID:29580235 PMID:29582426 PMID:29614442 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29673794 PMID:29681614 PMID:29684080 PMID:29687286 PMID:29712865 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29755871 PMID:29758562 PMID:29770616 PMID:29774201 PMID:29785135 PMID:29785153 PMID:29790872 PMID:29797126 PMID:29805665 PMID:29852322 PMID:29854283 PMID:29868112 PMID:29875428 PMID:29884136 PMID:29884841 PMID:29901183 PMID:29903880 PMID:29905759 PMID:29907814 PMID:29922827 PMID:29928469 PMID:29936257 PMID:29936259 PMID:29937436 PMID:29940740 PMID:29945567 PMID:29961768 PMID:29963112 PMID:29975922 PMID:29997359 PMID:29998185 PMID:30014164 PMID:30032850 PMID:30039884 PMID:30040829 PMID:30054569 PMID:30055521 PMID:30067075 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30101128 PMID:30103829 PMID:30105462 PMID:30111351 PMID:30113427 PMID:30128899 PMID:30130155 PMID:30152102 PMID:30154229 PMID:30159786 PMID:30175445 PMID:30181556 PMID:30186769 PMID:30191368 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30204945 PMID:30207098 PMID:30209299 PMID:30209339 PMID:30209399 PMID:30212499 PMID:30213835 PMID:30214756 PMID:30219179 PMID:30225334 PMID:30247247 PMID:30254663 PMID:30257646 PMID:30257991 PMID:30262796 PMID:30263092 PMID:30263132 PMID:30264118 PMID:30266954 PMID:30274973 PMID:30283497 PMID:30287823 PMID:30291343 PMID:30306255 PMID:30309222 PMID:30315757 PMID:30322717 PMID:30325992 PMID:30333958 PMID:30339520 PMID:30340058 PMID:30350268 PMID:30374176 PMID:30400234 PMID:30415210 PMID:30425037 PMID:30430080 PMID:30441849 PMID:30446274 PMID:30458859 PMID:30472649 PMID:30474649 PMID:30480775 PMID:30487145 PMID:30489631 PMID:30535581 PMID:30542053 PMID:30545397 PMID:30548481 PMID:30551077 PMID:30555256 PMID:30564348 PMID:30584090 PMID:30584990 PMID:30586678 PMID:30603682 PMID:30606148 PMID:30613976 PMID:30617304 PMID:30623411 PMID:30630526 PMID:30630528 PMID:30646163 PMID:30651582 PMID:30652428 PMID:30666157 PMID:30675319 PMID:30676620 PMID:30678073 PMID:30696104 PMID:30702160 PMID:30713775 PMID:30715675 PMID:30720243 PMID:30720863 PMID:30725392 PMID:30728895 PMID:30730459 PMID:30736279 PMID:30736435 PMID:30765603 PMID:30787465 PMID:30788324 PMID:30797618 PMID:30825404 PMID:30832263 PMID:30840646 PMID:30850667 PMID:30875412 PMID:30883245 PMID:30927251 PMID:30940100 PMID:30962250 PMID:30968603 PMID:30972954 PMID:30975216 PMID:30979843 PMID:30982232 PMID:30992324 PMID:31013702 PMID:31064392 PMID:31065452 PMID:31076742 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31124283 PMID:31125277 PMID:31131967 PMID:31141992 PMID:31143303 PMID:31144781 PMID:31159747 PMID:31161121 PMID:31173646 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31228304 PMID:31248605 PMID:31263571 PMID:31265121 PMID:31270457 PMID:31294896 PMID:31300551 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31337648 PMID:31341520 PMID:31341521 PMID:31341951 PMID:31343793 PMID:31347298 PMID:31350202 PMID:31360874 PMID:31360904 PMID:31368036 PMID:31372034 PMID:31407530 PMID:31409081 PMID:31411802 PMID:31415627 PMID:31422574 PMID:31432501 PMID:31447071 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31456542 PMID:31464824 PMID:31465090 PMID:31467430 PMID:31467961 PMID:31468469 PMID:31472684 PMID:31476386 PMID:31476665 PMID:31477031 PMID:31481248 PMID:31483290 PMID:31484976 PMID:31488070 PMID:31492746 PMID:31528241 PMID:31565484 PMID:31570899 PMID:31589614 PMID:31616044 PMID:31639439 PMID:31642931 PMID:31645765 PMID:31683985 PMID:31706072 PMID:31742824 PMID:31745186 PMID:31753525 PMID:31759379 PMID:31771539 PMID:31780705 PMID:31785789 PMID:31794323 PMID:31815095 PMID:31825140 PMID:31843900 PMID:31850619 PMID:31851867 PMID:31853058 PMID:31867841 PMID:31869745 PMID:31871109 PMID:31871297 PMID:31897316 PMID:31907386 PMID:31908633 PMID:31911673 PMID:31912679 PMID:31921681 PMID:31924417 PMID:31937788 PMID:31954625 PMID:31957001 PMID:31958182 PMID:31959133 PMID:31992191 PMID:32008151 PMID:32009791 PMID:32019277 PMID:32019279 PMID:32019284 PMID:32025337 PMID:32029870 PMID:32039725 PMID:32042831 PMID:32050665 PMID:32058061 PMID:32068069 PMID:32072338 PMID:32091409 PMID:32092317 PMID:32101877 PMID:32123317 PMID:32124385 PMID:32125938 PMID:32133419 PMID:32152249 PMID:32195105 PMID:32199636 PMID:32203205 PMID:32211327 PMID:32231684 PMID:32234730 PMID:32255556 PMID:32257056 PMID:32269290 PMID:32284662 PMID:32295079 PMID:32318955 PMID:32322110 PMID:32338768 PMID:32341426 PMID:32356124 PMID:32371905 PMID:32375709 PMID:32377563 PMID:32380732 PMID:32393398 PMID:32410793 PMID:32420470 PMID:32426482 PMID:32427313 PMID:32429029 PMID:32438681 PMID:32451972 PMID:32455662 PMID:32467295 PMID:32486089 PMID:32495382 PMID:32516569 PMID:32546644 PMID:32548945 PMID:32552130 PMID:32554602 PMID:32566972 PMID:32571788 PMID:32599251 PMID:32614418 PMID:32623769 PMID:32658311 PMID:32699032 PMID:32709856 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32733560 PMID:32741062 PMID:32745242 PMID:32761968 PMID:32772980 PMID:32776218 PMID:32778078 PMID:32782288 PMID:32803532 PMID:32806537 PMID:32812259 PMID:32817299 PMID:32824581 PMID:32832836 PMID:32843487 PMID:32846166 PMID:32850417 PMID:32854451 PMID:32856854 PMID:32856862 PMID:32856869 PMID:32862574 PMID:32866190 PMID:32868316 PMID:32868804 PMID:32879886 PMID:32885271 PMID:32894085 PMID:32895300 PMID:32906206 PMID:32918181 PMID:32959997 PMID:32963034 PMID:32980694 PMID:32986223 PMID:33008098 PMID:33010199 PMID:33037428 PMID:33067490 PMID:33067557 PMID:33078592 PMID:33083013 PMID:33084842 PMID:33087180 PMID:33087888 PMID:33087929 PMID:33098347 PMID:33106425 PMID:33113089 PMID:33151324 PMID:33206196 PMID:33206719 PMID:33230308 PMID:33233347 PMID:33240314 PMID:33258288 PMID:33273034 PMID:33274848 PMID:33278427 PMID:33285109 PMID:33287145 PMID:33302456 PMID:33309985 PMID:33314633 PMID:33403015 PMID:33413596 PMID:33428613 PMID:33432171 PMID:33442023 PMID:33449224 PMID:33461583 PMID:33468216 PMID:33471991 PMID:33476590 PMID:33477375 PMID:33484353 PMID:33507482 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33563323 PMID:33573335 PMID:33606355 PMID:33606809 PMID:33610559 PMID:33612442 PMID:33629534 PMID:33630411 PMID:33646313 PMID:33649982 PMID:33654310 PMID:33654645 PMID:33670479 PMID:33674644 PMID:33720054 PMID:33726785 PMID:33758026 PMID:33773534 PMID:33801055 PMID:33804961 PMID:33850299 PMID:33850850 PMID:33858678 PMID:33875564 PMID:33875706 PMID:33888336 PMID:33937409 PMID:33945048 PMID:33948387 PMID:34011307 PMID:34026625 PMID:34046351 PMID:34063308 PMID:34072659 PMID:34083286 PMID:34120093 PMID:34130653 PMID:34178674 PMID:34196900 PMID:34204722 PMID:34218100 PMID:34232950 PMID:34235180 PMID:34242281 PMID:34254208 PMID:34271787 PMID:34284872 PMID:34287479 PMID:34290354 PMID:34296289 PMID:34301763 PMID:34308104 PMID:34326862 PMID:34396183 PMID:34403063 PMID:34404389 PMID:34413315 PMID:34449592 PMID:34453642 PMID:34490083 PMID:34503154 PMID:34529195 PMID:34572941 PMID:34597585 PMID:34645131 PMID:34646395 PMID:34657357 PMID:34657373 PMID:34663891 PMID:34680387 PMID:34680878 PMID:34687117 PMID:34697415 PMID:34717758 PMID:34721658 PMID:34749799 PMID:34793697 PMID:34823292 PMID:34855882 PMID:34887416 PMID:34906479 PMID:34917121 PMID:34930165 PMID:34981296 PMID:35023674 PMID:35039532 PMID:35039564 PMID:35053526 PMID:35070997 PMID:35087763 PMID:35116780 PMID:35127312 PMID:35127315 PMID:35127508 PMID:35150867 PMID:35165121 PMID:35167739 PMID:35171259 PMID:35177575 PMID:35186721 PMID:35196514 PMID:35205313 PMID:35205643 PMID:35220195 PMID:35260053 PMID:35263119 PMID:35264596 PMID:35273153 PMID:35281878 PMID:35290602 PMID:35300142 PMID:35377489 PMID:35384527 PMID:35402282 PMID:35409408 PMID:35409996 PMID:35420638 PMID:35438911 PMID:35449021 PMID:35456503 PMID:35464868 PMID:35477782 PMID:35534113 PMID:35534704 PMID:35535697 PMID:35578052 PMID:35585550 PMID:35625946 PMID:35626017 PMID:35659930 PMID:35665744 PMID:35666082 PMID:35671604 PMID:35681111 PMID:35698740 PMID:35710434 PMID:35712480 PMID:35731312 PMID:35734583 PMID:35753294 PMID:35754315 PMID:35858847 PMID:35864222 PMID:35875314 PMID:35886069 PMID:35908255 PMID:35918668 PMID:35957908 PMID:35980532 PMID:35988656 PMID:36003761 PMID:36011273 PMID:36147908 PMID:36149077 PMID:36169650 PMID:36171434 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36329109 PMID:36345163 PMID:36367610 PMID:36385461 PMID:36385762 PMID:36446827 PMID:36451132 PMID:36463295 PMID:36537080 PMID:36605468 PMID:36612302 PMID:36620844 PMID:36627197 PMID:36644153 PMID:36753473 PMID:36833189 PMID:36881271 PMID:36900375 PMID:36922883 PMID:36927983 PMID:36964191 PMID:36969051 PMID:36974006 PMID:36977404 PMID:36988593 PMID:37060015 PMID:37085799 PMID:37168384 PMID:37277882 PMID:37280479 PMID:37310942 PMID:37335020 PMID:37415649 PMID:37460928 PMID:37523182 PMID:37718511 PMID:37719058 PMID:37731132 PMID:37731153 PMID:37851290 PMID:38355628 PMID:38386807 PMID:38439815 PMID:38645101 PMID:38785549 PMID:38922859 PMID:39142283 PMID:117470134 PMID:207276720 PMID:213324516 PMID:255556971 More...
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
G
BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar OMIM
PMID:1 PMID:1234 PMID:91784 PMID:184056 PMID:186727 PMID:218118 PMID:234495 PMID:251866 PMID:278235 PMID:326144 PMID:668580 PMID:734551 PMID:831230 PMID:897864 PMID:1169856 PMID:1178672 PMID:1232165 PMID:1432501 PMID:1446381 PMID:1772447 PMID:1843150 PMID:1990134 PMID:2010458 PMID:2200631 PMID:2661312 PMID:2673801 PMID:2684510 PMID:2928257 PMID:3108138 PMID:3146935 PMID:3244479 PMID:3313277 PMID:3347199 PMID:3378028 PMID:3413277 PMID:3723905 PMID:3983145 PMID:4055113 PMID:4301060 PMID:6295337 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8640235 PMID:8640236 PMID:8665505 PMID:8673089 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8706004 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8968085 PMID:8988179 PMID:9012404 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9126738 PMID:9133456 PMID:9145676 PMID:9145678 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150155 PMID:9150172 PMID:9150174 PMID:9167459 PMID:9192668 PMID:9228974 PMID:9361038 PMID:9400938 PMID:9405383 PMID:9429140 PMID:9536098 PMID:9537231 PMID:9537232 PMID:9579822 PMID:9585608 PMID:9585613 PMID:9585617 PMID:9609997 PMID:9625424 PMID:9634522 PMID:9643283 PMID:9654203 PMID:9667259 PMID:9699678 PMID:9758598 PMID:9760198 PMID:9761393 PMID:9766673 PMID:9771877 PMID:9792861 PMID:9802270 PMID:9836472 PMID:9840533 PMID:9971877 PMID:10070953 PMID:10188893 PMID:10227398 PMID:10323242 PMID:10359546 PMID:10373512 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10451700 PMID:10453741 PMID:10464609 PMID:10464624 PMID:10464631 PMID:10486320 PMID:10498392 PMID:10505028 PMID:10506595 PMID:10550133 PMID:10551859 PMID:10570174 PMID:10595255 PMID:10615237 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10690392 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10733239 PMID:10739756 PMID:10755399 PMID:10788334 PMID:10790213 PMID:10800284 PMID:10807692 PMID:10815905 PMID:10874312 PMID:10882858 PMID:10899649 PMID:10923033 PMID:10952777 PMID:10969800 PMID:10978364 PMID:10980621 PMID:10995809 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11044644 PMID:11056688 PMID:11062481 PMID:11090354 PMID:11091690 PMID:11102977 PMID:11102978 PMID:11102986 PMID:11106241 PMID:11106360 PMID:11139248 PMID:11139249 PMID:11149425 PMID:11158174 PMID:11170288 PMID:11170890 PMID:11179017 PMID:11180605 PMID:11180606 PMID:11185744 PMID:11207042 PMID:11239456 PMID:11240689 PMID:11241844 PMID:11251181 PMID:11267991 PMID:11284040 PMID:11304778 PMID:11307153 PMID:11309337 PMID:11336395 PMID:11359068 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11430722 PMID:11447276 PMID:11466700 PMID:11504767 PMID:11512557 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11698567 PMID:11710835 PMID:11710890 PMID:11748848 PMID:11754111 PMID:11781689 PMID:11793480 PMID:11802208 PMID:11802209 PMID:11812938 PMID:11836363 PMID:11843247 PMID:11844822 PMID:11857748 PMID:11861370 PMID:11873550 PMID:11879560 PMID:11890985 PMID:11896095 PMID:11897832 PMID:11904319 PMID:11920621 PMID:11920643 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11941481 PMID:11948123 PMID:11948477 PMID:11950811 PMID:11972384 PMID:11979449 PMID:12036913 PMID:12048272 PMID:12065746 PMID:12070551 PMID:12097257 PMID:12097290 PMID:12100744 PMID:12112655 PMID:12114473 PMID:12114492 PMID:12142080 PMID:12145750 PMID:12161607 PMID:12181777 PMID:12203997 PMID:12204006 PMID:12215251 PMID:12228710 PMID:12237285 PMID:12373604 PMID:12385017 PMID:12385650 PMID:12402332 PMID:12414830 PMID:12427538 PMID:12442171 PMID:12442265 PMID:12442273 PMID:12442274 PMID:12442275 PMID:12461697 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12491499 PMID:12519945 PMID:12552570 PMID:12556369 PMID:12569143 PMID:12601471 PMID:12606139 PMID:12618335 PMID:12624152 PMID:12624724 PMID:12649099 PMID:12655560 PMID:12655567 PMID:12655574 PMID:12670525 PMID:12672316 PMID:12673274 PMID:12673801 PMID:12684407 PMID:12698193 PMID:12747142 PMID:12750261 PMID:12750298 PMID:12754708 PMID:12759930 PMID:12774040 PMID:12815053 PMID:12845657 PMID:12872265 PMID:12900794 PMID:12915460 PMID:12920083 PMID:12928470 PMID:12938098 PMID:12942367 PMID:12955716 PMID:12955719 PMID:12960223 PMID:12967658 PMID:14507240 PMID:14517958 PMID:14520695 PMID:14520696 PMID:14531499 PMID:14555511 PMID:14555518 PMID:14559878 PMID:14574155 PMID:14574163 PMID:14574168 PMID:14576434 PMID:14647210 PMID:14647413 PMID:14647438 PMID:14662532 PMID:14670928 PMID:14672397 PMID:14684619 PMID:14722926 PMID:14732925 PMID:14735197 PMID:14746861 PMID:14757868 PMID:14757871 PMID:14955690 PMID:14973102 PMID:14981104 PMID:14985394 PMID:15004464 PMID:15010701 PMID:15024741 PMID:15026808 PMID:15059511 PMID:15070707 PMID:15115758 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15146557 PMID:15158118 PMID:15168169 PMID:15172125 PMID:15172753 PMID:15217494 PMID:15235023 PMID:15254695 PMID:15290653 PMID:15300854 PMID:15307796 PMID:15317758 PMID:15340362 PMID:15365993 PMID:15375703 PMID:15382066 PMID:15475941 PMID:15519522 PMID:15533909 PMID:15548363 PMID:15548676 PMID:15571962 PMID:15617999 PMID:15635067 PMID:15642173 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15728167 PMID:15733268 PMID:15744030 PMID:15744044 PMID:15766593 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15858120 PMID:15863663 PMID:15868448 PMID:15876480 PMID:15880509 PMID:15887246 PMID:15889636 PMID:15918047 PMID:15937124 PMID:15937982 PMID:15944772 PMID:15951958 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16011303 PMID:16015582 PMID:16030099 PMID:16047333 PMID:16047344 PMID:16088935 PMID:16115142 PMID:16140926 PMID:16141007 PMID:16162645 PMID:16168118 PMID:16168123 PMID:16170354 PMID:16199546 PMID:16199547 PMID:16205630 PMID:16211554 PMID:16234499 PMID:16261400 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16417627 PMID:16418514 PMID:16455195 PMID:16489001 PMID:16495342 PMID:16528604 PMID:16539696 PMID:16541310 PMID:16550498 PMID:16551709 PMID:16574953 PMID:16616110 PMID:16619214 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PMID:29774201 PMID:29785135 PMID:29785153 PMID:29790872 PMID:29791287 PMID:29797126 PMID:29797310 PMID:29802286 PMID:29805665 PMID:29849630 PMID:29854292 PMID:29860059 PMID:29875428 PMID:29881398 PMID:29884136 PMID:29884841 PMID:29891941 PMID:29905759 PMID:29906251 PMID:29906450 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29928469 PMID:29929473 PMID:29936257 PMID:29937315 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29969168 PMID:29978187 PMID:29983880 PMID:29988080 PMID:29997359 PMID:30014022 PMID:30014164 PMID:30032850 PMID:30039884 PMID:30040829 PMID:30050867 PMID:30051098 PMID:30054569 PMID:30055349 PMID:30067075 PMID:30067863 PMID:30068706 PMID:30078507 PMID:30086788 PMID:30093976 PMID:30101128 PMID:30103829 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30130155 PMID:30131383 PMID:30151275 PMID:30152102 PMID:30154229 PMID:30159786 PMID:30174293 PMID:30175445 PMID:30181556 PMID:30185652 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30204945 PMID:30207912 PMID:30212499 PMID:30214756 PMID:30217213 PMID:30233647 PMID:30240327 PMID:30254663 PMID:30257646 PMID:30262796 PMID:30263092 PMID:30263132 PMID:30267214 PMID:30267352 PMID:30274973 PMID:30286154 PMID:30287823 PMID:30293905 PMID:30309222 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30333958 PMID:30339520 PMID:30340782 PMID:30348637 PMID:30350268 PMID:30362333 PMID:30374176 PMID:30400234 PMID:30410429 PMID:30410870 PMID:30415210 PMID:30418626 PMID:30425037 PMID:30425093 PMID:30426508 PMID:30430080 PMID:30430339 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30472649 PMID:30487518 PMID:30489631 PMID:30535581 PMID:30541756 PMID:30548481 PMID:30555256 PMID:30588330 PMID:30601186 PMID:30603682 PMID:30606148 PMID:30609409 PMID:30611917 PMID:30612635 PMID:30613824 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30625039 PMID:30630526 PMID:30630528 PMID:30635808 PMID:30638113 PMID:30640733 PMID:30643566 PMID:30646163 PMID:30651582 PMID:30652428 PMID:30672594 PMID:30675319 PMID:30683709 PMID:30696104 PMID:30702160 PMID:30706003 PMID:30713775 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30725392 PMID:30728895 PMID:30736279 PMID:30736435 PMID:30742731 PMID:30760827 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30832263 PMID:30836094 PMID:30839285 PMID:30840204 PMID:30850667 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30883759 PMID:30927264 PMID:30940100 PMID:30968603 PMID:30972954 PMID:30982232 PMID:30995915 PMID:31002019 PMID:31019283 PMID:31026599 PMID:31039815 PMID:31050813 PMID:31060517 PMID:31060523 PMID:31060593 PMID:31065452 PMID:31069257 PMID:31076742 PMID:31090900 PMID:31102422 PMID:31112341 PMID:31112363 PMID:31125106 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31143373 PMID:31158355 PMID:31159747 PMID:31161121 PMID:31173646 PMID:31174203 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31227342 PMID:31227566 PMID:31228304 PMID:31229654 PMID:31248605 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31264438 PMID:31265121 PMID:31269945 PMID:31273614 PMID:31294896 PMID:31300551 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31341520 PMID:31343793 PMID:31350202 PMID:31358837 PMID:31360904 PMID:31368036 PMID:31372034 PMID:31391296 PMID:31396961 PMID:31407530 PMID:31409081 PMID:31411802 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31432501 PMID:31444830 PMID:31446535 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31464824 PMID:31465090 PMID:31467961 PMID:31469826 PMID:31472684 PMID:31477031 PMID:31488816 PMID:31497750 PMID:31512090 PMID:31518337 PMID:31528241 PMID:31537621 PMID:31550176 PMID:31556562 PMID:31558676 PMID:31565484 PMID:31567591 PMID:31569370 PMID:31575519 PMID:31585108 PMID:31586400 PMID:31589614 PMID:31608315 PMID:31631483 PMID:31640893 PMID:31642931 PMID:31658756 PMID:31666926 PMID:31706072 PMID:31721094 PMID:31721781 PMID:31723001 PMID:31742824 PMID:31753525 PMID:31771539 PMID:31780696 PMID:31780705 PMID:31782247 PMID:31786208 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31850198 PMID:31851867 PMID:31853058 PMID:31854063 PMID:31857723 PMID:31869745 PMID:31871109 PMID:31874108 PMID:31875949 PMID:31883735 PMID:31887429 PMID:31892343 PMID:31907376 PMID:31907386 PMID:31911633 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31942411 PMID:31948886 PMID:31949930 PMID:31954625 PMID:31957001 PMID:31959344 PMID:31970404 PMID:31980526 PMID:32002120 PMID:32019277 PMID:32019284 PMID:32022259 PMID:32029870 PMID:32034076 PMID:32039725 PMID:32042831 PMID:32046981 PMID:32058061 PMID:32059136 PMID:32064343 PMID:32066459 PMID:32068069 PMID:32072338 PMID:32073954 PMID:32090079 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32104210 PMID:32114502 PMID:32123317 PMID:32125938 PMID:32132887 PMID:32133419 PMID:32160537 PMID:32164353 PMID:32164585 PMID:32165993 PMID:32170000 PMID:32190957 PMID:32194909 PMID:32206145 PMID:32211327 PMID:32231682 PMID:32231684 PMID:32234730 PMID:32255556 PMID:32256484 PMID:32268276 PMID:32284662 PMID:32286328 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32321997 PMID:32338768 PMID:32341426 PMID:32354124 PMID:32354836 PMID:32356124 PMID:32359129 PMID:32365798 PMID:32375709 PMID:32377194 PMID:32377563 PMID:32380732 PMID:32383162 PMID:32393398 PMID:32393813 PMID:32398771 PMID:32410793 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32442302 PMID:32444794 PMID:32451972 PMID:32454976 PMID:32455662 PMID:32467295 PMID:32468491 PMID:32482800 PMID:32483276 PMID:32486089 PMID:32489267 PMID:32504368 PMID:32510664 PMID:32521533 PMID:32522261 PMID:32532514 PMID:32548945 PMID:32554602 PMID:32563252 PMID:32566972 PMID:32570879 PMID:32571290 PMID:32576986 PMID:32579544 PMID:32581362 PMID:32596633 PMID:32599251 PMID:32606146 PMID:32613071 PMID:32614418 PMID:32623391 PMID:32623769 PMID:32641407 PMID:32658311 PMID:32659497 PMID:32694901 PMID:32699032 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32720318 PMID:32733560 PMID:32761968 PMID:32770442 PMID:32772980 PMID:32776218 PMID:32778078 PMID:32782288 PMID:32806537 PMID:32812259 PMID:32814805 PMID:32816949 PMID:32817299 PMID:32820175 PMID:32824581 PMID:32832836 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32856869 PMID:32862574 PMID:32866190 PMID:32868316 PMID:32872764 PMID:32875559 PMID:32879886 PMID:32885271 PMID:32886903 PMID:32894085 PMID:32906206 PMID:32914019 PMID:32918181 PMID:32923906 PMID:32939053 PMID:32947577 PMID:32957395 PMID:32959997 PMID:32963034 PMID:32971473 PMID:32980694 PMID:32980867 PMID:32984025 PMID:32986223 PMID:32988965 PMID:32992489 PMID:32994724 PMID:33007869 PMID:33008098 PMID:33010199 PMID:33011440 PMID:33015532 PMID:33020491 PMID:33054725 PMID:33057101 PMID:33067490 PMID:33067557 PMID:33077847 PMID:33078592 PMID:33084842 PMID:33087175 PMID:33087929 PMID:33113089 PMID:33127389 PMID:33151324 PMID:33172502 PMID:33193653 PMID:33203166 PMID:33230308 PMID:33233347 PMID:33240400 PMID:33273034 PMID:33287145 PMID:33293522 PMID:33302456 PMID:33309985 PMID:33314489 PMID:33359728 PMID:33372952 PMID:33376937 PMID:33399082 PMID:33403015 PMID:33428613 PMID:33439686 PMID:33461583 PMID:33461977 PMID:33462368 PMID:33466630 PMID:33468216 PMID:33469799 PMID:33471974 PMID:33471991 PMID:33476590 PMID:33478551 PMID:33479248 PMID:33484353 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33563768 PMID:33573335 PMID:33599307 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33643918 PMID:33646313 PMID:33649982 PMID:33654310 PMID:33670479 PMID:33672545 PMID:33674644 PMID:33710808 PMID:33720054 PMID:33726785 PMID:33731496 PMID:33747920 PMID:33753322 PMID:33754277 PMID:33758026 PMID:33773534 PMID:33773808 PMID:33780288 PMID:33801055 PMID:33804961 PMID:33808557 PMID:33842585 PMID:33850299 PMID:33850850 PMID:33854378 PMID:33868589 PMID:33875706 PMID:33888336 PMID:33891299 PMID:33893315 PMID:33918338 PMID:33939675 PMID:33948387 PMID:33964450 PMID:33970096 PMID:33977503 PMID:33978741 PMID:34008015 PMID:34011307 PMID:34022715 PMID:34026625 PMID:34034685 PMID:34046351 PMID:34063308 PMID:34072659 PMID:34097676 PMID:34100114 PMID:34101484 PMID:34157791 PMID:34178674 PMID:34196900 PMID:34200245 PMID:34201547 PMID:34204722 PMID:34218100 PMID:34234914 PMID:34235180 PMID:34242281 PMID:34250406 PMID:34250417 PMID:34284872 PMID:34287479 PMID:34290354 PMID:34296289 PMID:34298626 PMID:34302857 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34316023 PMID:34326862 PMID:34350294 PMID:34359619 PMID:34377931 PMID:34399810 PMID:34413315 PMID:34426522 PMID:34445631 PMID:34449592 PMID:34452747 PMID:34465320 PMID:34490083 PMID:34500047 PMID:34503154 PMID:34504103 PMID:34506673 PMID:34541275 PMID:34548921 PMID:34552099 PMID:34567246 PMID:34570441 PMID:34572941 PMID:34594355 PMID:34597585 PMID:34598035 PMID:34616674 PMID:34637943 PMID:34645131 PMID:34653963 PMID:34657357 PMID:34657373 PMID:34658299 PMID:34659905 PMID:34660253 PMID:34663891 PMID:34680387 PMID:34680878 PMID:34687993 PMID:34697207 PMID:34700141 PMID:34709755 PMID:34717758 PMID:34741701 PMID:34749799 PMID:34755017 PMID:34761457 PMID:34771991 PMID:34828379 PMID:34884835 PMID:34906479 PMID:34917121 PMID:34930165 PMID:34933735 PMID:34949660 PMID:34970085 PMID:34979999 PMID:34994648 PMID:35008403 PMID:35039564 PMID:35050751 PMID:35053526 PMID:35070997 PMID:35115620 PMID:35127508 PMID:35150867 PMID:35171259 PMID:35190686 PMID:35205313 PMID:35205366 PMID:35220195 PMID:35260348 PMID:35261632 PMID:35263119 PMID:35264596 PMID:35281878 PMID:35300142 PMID:35309086 PMID:35325018 PMID:35353237 PMID:35356428 PMID:35365640 PMID:35373174 PMID:35377489 PMID:35382848 PMID:35402282 PMID:35409418 PMID:35409996 PMID:35411189 PMID:35418818 PMID:35428255 PMID:35438911 PMID:35441217 PMID:35451682 PMID:35456488 PMID:35464868 PMID:35472165 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35535289 PMID:35535697 PMID:35547873 PMID:35599270 PMID:35641219 PMID:35641994 PMID:35665744 PMID:35666082 PMID:35681111 PMID:35693198 PMID:35698740 PMID:35710434 PMID:35711920 PMID:35714671 PMID:35727495 PMID:35731312 PMID:35734583 PMID:35736817 PMID:35737919 PMID:35741847 PMID:35753294 PMID:35761208 PMID:35762214 PMID:35834759 PMID:35858847 PMID:35864222 PMID:35870019 PMID:35875314 PMID:35879854 PMID:35886069 PMID:35892882 PMID:35908255 PMID:35912641 PMID:35918668 PMID:35944511 PMID:35949895 PMID:35957908 PMID:35979650 PMID:35980532 PMID:36000185 PMID:36011273 PMID:36045058 PMID:36095024 PMID:36098506 PMID:36119527 PMID:36139606 PMID:36140756 PMID:36149077 PMID:36169650 PMID:36171877 PMID:36200007 PMID:36232564 PMID:36243179 PMID:36259290 PMID:36290365 PMID:36292577 PMID:36315513 PMID:36324133 PMID:36329109 PMID:36359225 PMID:36367123 PMID:36367610 PMID:36370215 PMID:36404616 PMID:36413997 PMID:36446827 PMID:36451132 PMID:36471068 PMID:36474027 PMID:36537080 PMID:36551643 PMID:36561320 PMID:36605468 PMID:36623239 PMID:36627197 PMID:36707518 PMID:36721989 PMID:36732629 PMID:36775216 PMID:36785489 PMID:36833268 PMID:36851449 PMID:36853301 PMID:36881271 PMID:36898365 PMID:36922933 PMID:36974006 PMID:36977404 PMID:36980738 PMID:36980780 PMID:36988593 PMID:36998040 PMID:36999648 PMID:37002487 PMID:37013556 PMID:37060015 PMID:37067535 PMID:37116400 PMID:37118955 PMID:37149759 PMID:37173992 PMID:37239058 PMID:37272928 PMID:37277882 PMID:37306523 PMID:37335020 PMID:37344829 PMID:37349538 PMID:37415649 PMID:37430226 PMID:37461096 PMID:37644014 PMID:37664050 PMID:37713444 PMID:37725113 PMID:37731132 PMID:37922907 PMID:37970354 PMID:38003901 PMID:38136276 PMID:38160042 PMID:38298632 PMID:38417439 PMID:38439815 PMID:38509102 PMID:38566028 PMID:38709234 PMID:38922859 PMID:39194688 PMID:116985367 PMID:121769658 PMID:219131812 More...
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
G
BRIP1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:2455662 PMID:3375802 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16116426 PMID:16153896 PMID:16199547 PMID:16280053 PMID:16430786 PMID:16973432 PMID:17033622 PMID:17145708 PMID:17342202 PMID:17596542 PMID:18414782 PMID:18426915 PMID:18483852 PMID:18510924 PMID:18628483 PMID:18978354 PMID:19099189 PMID:19127258 PMID:19150983 PMID:19339519 PMID:19379763 PMID:19442249 PMID:19519404 PMID:19584272 PMID:19763819 PMID:19935797 PMID:20068231 PMID:20159562 PMID:20168331 PMID:20173781 PMID:20177395 PMID:20639400 PMID:20980836 PMID:21127055 PMID:21165771 PMID:21279724 PMID:21345144 PMID:21356067 PMID:21409391 PMID:21964575 PMID:22006311 PMID:22024395 PMID:22287629 PMID:22582397 PMID:22692731 PMID:22792074 PMID:23161009 PMID:23276657 PMID:23555315 PMID:23613520 PMID:23644138 PMID:23935105 PMID:24033266 PMID:24123366 PMID:24240112 PMID:24448499 PMID:24487782 PMID:24556621 PMID:24573678 PMID:24584348 PMID:24728327 PMID:24763289 PMID:24895130 PMID:25186627 PMID:25256751 PMID:25318351 PMID:25326637 PMID:25330149 PMID:25374583 PMID:25452441 PMID:25503501 PMID:25583461 PMID:25646469 PMID:25722345 PMID:25741868 PMID:25783483 PMID:25807282 PMID:25877891 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26296696 PMID:26315354 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26596371 PMID:26635394 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26709662 PMID:26720728 PMID:26757417 PMID:26786923 PMID:26790966 PMID:26822149 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26901136 PMID:26911350 PMID:26921362 PMID:26968956 PMID:26976419 PMID:27074266 PMID:27107905 PMID:27150160 PMID:27153395 PMID:27179029 PMID:27193682 PMID:27378695 PMID:27427815 PMID:27498913 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27701467 PMID:27854218 PMID:27978560 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28423363 PMID:28452373 PMID:28492532 PMID:28495237 PMID:28528518 PMID:28678401 PMID:28767289 PMID:28796317 PMID:28888541 PMID:28911102 PMID:28961279 PMID:29053726 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29368341 PMID:29368626 PMID:29478780 PMID:29566657 PMID:29596542 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:29958926 PMID:29961768 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30254378 PMID:30264118 PMID:30267214 PMID:30295334 PMID:30306255 PMID:30322717 PMID:30374176 PMID:30414346 PMID:30426508 PMID:30612635 PMID:30651582 PMID:30680046 PMID:30728895 PMID:30792206 PMID:30914433 PMID:30982232 PMID:30998136 PMID:31118792 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31325073 PMID:31341520 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31666926 PMID:31742824 PMID:31794323 PMID:31822495 PMID:31844177 PMID:31871109 PMID:31882575 PMID:31980526 PMID:32019284 PMID:32068069 PMID:32091409 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32359370 PMID:32426482 PMID:32427313 PMID:32542039 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32830346 PMID:32832836 PMID:32885271 PMID:32959997 PMID:32980694 PMID:32984025 PMID:32986223 PMID:33008098 PMID:33028645 PMID:33115781 PMID:33120919 PMID:33309985 PMID:33413596 PMID:33471991 PMID:33546375 PMID:33552952 PMID:33619228 PMID:33646313 PMID:33649982 PMID:33804961 PMID:33840814 PMID:33910496 PMID:33980423 PMID:34011307 PMID:34026625 PMID:34072463 PMID:34284872 PMID:34308104 PMID:34326862 PMID:34503154 PMID:34570441 PMID:34585473 PMID:34585738 PMID:34653963 PMID:34754157 PMID:34793666 PMID:34887416 PMID:34897210 PMID:35022142 PMID:35039564 PMID:35118230 PMID:35127508 PMID:35171259 PMID:35205822 PMID:35263119 PMID:35264596 PMID:35273153 PMID:35467778 PMID:35534704 PMID:35734982 PMID:35957908 PMID:35986085 PMID:36011273 PMID:36035419 PMID:36243179 PMID:36451132 PMID:36630951 PMID:36672847 PMID:36896836 PMID:36988593 PMID:38298632 More...
NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847
G
C12H17orf67
chromosome 12 C17orf67 homolog
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,104,570...33,125,799
Ensembl chr12:33,107,442...33,125,839
G
C1QL1
complement C1q like 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,410,191...18,416,758
Ensembl chr12:18,409,992...18,417,759
G
C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1849795 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8755819 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9043869 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9536098 PMID:9537233 PMID:9764584 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10425038 PMID:10464642 PMID:10738255 PMID:10817650 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756185 PMID:11805335 PMID:11830610 PMID:11849780 PMID:12072552 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12917204 PMID:12969974 PMID:14562025 PMID:14586414 PMID:14628072 PMID:14706517 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15696190 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16167060 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17166884 PMID:17333338 PMID:17344846 PMID:17393301 PMID:17517479 PMID:17576681 PMID:17623063 PMID:17910737 PMID:17968022 PMID:18384426 PMID:18497957 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:19018867 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19535770 PMID:19605768 PMID:19650357 PMID:19691550 PMID:19779456 PMID:19781682 PMID:19823873 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20346647 PMID:20840352 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22649200 PMID:22995991 PMID:23091097 PMID:23143971 PMID:23322442 PMID:23454770 PMID:23555315 PMID:23585524 PMID:23632773 PMID:23774824 PMID:23807571 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24172824 PMID:24326041 PMID:24416720 PMID:24448499 PMID:24451234 PMID:24556621 PMID:24628946 PMID:24728327 PMID:24733792 PMID:24853695 PMID:24983367 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25085752 PMID:25117502 PMID:25122203 PMID:25182519 PMID:25186627 PMID:25318351 PMID:25326635 PMID:25326637 PMID:25374739 PMID:25452441 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25741916 PMID:25742471 PMID:25914063 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26053404 PMID:26094658 PMID:26206375 PMID:26220245 PMID:26247737 PMID:26270727 PMID:26380989 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26787654 PMID:26822949 PMID:26837699 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27067391 PMID:27142713 PMID:27153395 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27528516 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27692705 PMID:27720647 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28093192 PMID:28093616 PMID:28126470 PMID:28135145 PMID:28170084 PMID:28195393 PMID:28492532 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28717660 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29036293 PMID:29360161 PMID:29445900 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29522266 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29758562 PMID:29905759 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:30067863 PMID:30093976 PMID:30128536 PMID:30197789 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30413523 PMID:30447919 PMID:30504431 PMID:30541756 PMID:30549301 PMID:30579816 PMID:30613976 PMID:30651582 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30836094 PMID:30851086 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31125277 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31285527 PMID:31407689 PMID:31422574 PMID:31447099 PMID:31611883 PMID:31742824 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31920950 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32113160 PMID:32125938 PMID:32183364 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32748564 PMID:32756499 PMID:32782288 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32980694 PMID:33050356 PMID:33095795 PMID:33098801 PMID:33134171 PMID:33163394 PMID:33280026 PMID:33309985 PMID:33330270 PMID:33402103 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33850299 PMID:33919281 PMID:34117267 PMID:34130653 PMID:34199532 PMID:34250417 PMID:34262154 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34426522 PMID:34445196 PMID:34570441 PMID:34573280 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34680878 PMID:34755017 PMID:34761457 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35245693 PMID:35264596 PMID:35273153 PMID:35312250 PMID:35354106 PMID:35365198 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35708139 PMID:35716007 PMID:35734982 PMID:35763645 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35980532 PMID:36029002 PMID:36099812 PMID:36200007 PMID:36243179 PMID:36315919 PMID:36521553 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36898365 PMID:36988593 PMID:37091313 PMID:37262986 PMID:37529773 PMID:38017116 PMID:38028594 PMID:39085400 More...
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
G
CA10
carbonic anhydrase 10
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,979,321...28,619,022
Ensembl chr12:27,979,331...28,615,807
G
CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
G
CALCOCO2
calcium binding and coiled-coil domain 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,050,008...25,080,230
Ensembl chr12:25,050,081...25,088,895
G
CBS
cystathionine beta-synthase
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:10462600 PMID:22267502 PMID:25741868 PMID:28492532
NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
G
CBX1
chromobox 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,319,104...24,351,057
Ensembl chr12:24,315,518...24,351,052
G
CCDC103
coiled-coil domain containing 103
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:18,469,705...18,474,316
G
CCDC43
coiled-coil domain containing 43
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,640,229...18,649,731
Ensembl chr12:18,640,278...18,654,212
G
CCNG1
cyclin G1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
G
CD300LG
CD300 molecule like family member g
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,270,969...19,284,405
G
CDC27
cell division cycle 27
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:16,810,868...16,882,271
Ensembl chr12:16,810,910...16,882,269
G
CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:1722187 PMID:2403327 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:10896919 PMID:11196175 PMID:11305955 PMID:11598162 PMID:11948460 PMID:11968083 PMID:12216071 PMID:12588804 PMID:12800196 PMID:12944922 PMID:14500541 PMID:14562278 PMID:15173255 PMID:15235021 PMID:15750927 PMID:16112667 PMID:16501831 PMID:16527687 PMID:16787116 PMID:16801346 PMID:16924464 PMID:16929514 PMID:17221870 PMID:17224074 PMID:17261850 PMID:17510211 PMID:17545690 PMID:17668349 PMID:18788075 PMID:19011631 PMID:19017792 PMID:19247957 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21989054 PMID:22006311 PMID:22225527 PMID:22470475 PMID:22703879 PMID:22850631 PMID:23197654 PMID:23431106 PMID:23435907 PMID:23709761 PMID:24033266 PMID:24055113 PMID:24204729 PMID:24326041 PMID:24373500 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:24784840 PMID:24817184 PMID:24969172 PMID:25067988 PMID:25142776 PMID:25180051 PMID:25186627 PMID:25187893 PMID:25231023 PMID:25326637 PMID:25388006 PMID:25593300 PMID:25637381 PMID:25648022 PMID:25741868 PMID:25856671 PMID:25862857 PMID:25980754 PMID:26022348 PMID:26072394 PMID:26086041 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26486520 PMID:26534844 PMID:26580448 PMID:26601054 PMID:26692440 PMID:26707089 PMID:26757417 PMID:26759166 PMID:26822949 PMID:26845104 PMID:26893459 PMID:26976419 PMID:27121310 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27720647 PMID:27930734 PMID:27978560 PMID:27995193 PMID:28135145 PMID:28301460 PMID:28338653 PMID:28492532 PMID:28503720 PMID:28522256 PMID:28577310 PMID:28580595 PMID:28640387 PMID:28688938 PMID:28699883 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28975465 PMID:29016666 PMID:29050249 PMID:29131691 PMID:29212164 PMID:29348693 PMID:29431110 PMID:29470806 PMID:29577179 PMID:29589180 PMID:29752822 PMID:29926297 PMID:30093976 PMID:30239046 PMID:30287823 PMID:30311375 PMID:30374176 PMID:30661051 PMID:30745422 PMID:31159747 PMID:31511843 PMID:31600923 PMID:31638429 PMID:31642931 PMID:31783775 PMID:31784482 PMID:31843900 PMID:31871109 PMID:32241597 PMID:32295625 PMID:32566746 PMID:32811340 PMID:32885271 PMID:32906206 PMID:32957588 PMID:33309985 PMID:33322525 PMID:33441174 PMID:33471991 PMID:33809393 PMID:33929593 PMID:34267306 PMID:34299313 PMID:34326862 PMID:34471991 PMID:34537906 PMID:35171259 PMID:36202008 PMID:36243179 PMID:36436516 More...
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
G
CDK12
cyclin dependent kinase 12
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:24728327 PMID:25741868
NCBI chr12:22,755,365...22,831,397
Ensembl chr12:22,775,226...22,831,333
G
CDK20
cyclin dependent kinase 20
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:25741868
NCBI chr14:15,582...24,102
G
CDK5RAP3
CDK5 regulatory subunit associated protein 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,224,262...24,234,468
Ensembl chr12:24,224,263...24,234,467
G
CFAP97D1
CFAP97 domain containing 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,330,354...19,336,221
Ensembl chr12:19,330,951...19,334,824
G
CHAD
chondroadherin
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,741,737...26,746,364
Ensembl chr12:26,742,494...26,746,214
G
CHD1L
chromodomain helicase DNA binding protein 1 like
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692
G
CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:2681983 PMID:2723131 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12499371 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:12855706 PMID:12909615 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15060014 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15535844 PMID:15649950 PMID:15803365 PMID:15810020 PMID:15818573 PMID:15942682 PMID:16080966 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16794575 PMID:16798742 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17100999 PMID:17517688 PMID:17576681 PMID:17721994 PMID:18004398 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18297428 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19609724 PMID:19656415 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:20417869 PMID:20643596 PMID:20713355 PMID:20722467 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:21963792 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22090377 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22862163 PMID:22901170 PMID:22994785 PMID:22995991 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23329222 PMID:23334666 PMID:23381312 PMID:23415889 PMID:23469205 PMID:23552953 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24082139 PMID:24113346 PMID:24123366 PMID:24390236 PMID:24506336 PMID:24549055 PMID:24556621 PMID:24595525 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24763289 PMID:24879340 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25326637 PMID:25431674 PMID:25452411 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25619829 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26022348 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26260725 PMID:26270727 PMID:26296696 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26483394 PMID:26506619 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26898890 PMID:26976419 PMID:27028851 PMID:27067391 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27852271 PMID:27854218 PMID:27878467 PMID:27900359 PMID:27978560 PMID:28008555 PMID:28082821 PMID:28104920 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28281021 PMID:28452373 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28569743 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28727877 PMID:28734145 PMID:28743916 PMID:28779002 PMID:28783718 PMID:28802053 PMID:28825054 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28888541 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29021619 PMID:29095881 PMID:29146883 PMID:29212164 PMID:29271107 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29406849 PMID:29439820 PMID:29470806 PMID:29479983 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29555771 PMID:29560538 PMID:29596542 PMID:29625052 PMID:29659569 PMID:29667044 PMID:29684080 PMID:29703253 PMID:29747023 PMID:29752822 PMID:29758562 PMID:29761796 PMID:29785007 PMID:29785153 PMID:29866652 PMID:29875428 PMID:29879026 PMID:29902706 PMID:29909568 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30130155 PMID:30152102 PMID:30192042 PMID:30256826 PMID:30262796 PMID:30264118 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30322893 PMID:30333958 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30535581 PMID:30580288 PMID:30613976 PMID:30651582 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30680046 PMID:30706980 PMID:30826992 PMID:30833958 PMID:30851065 PMID:30858171 PMID:30875412 PMID:30927251 PMID:30967556 PMID:30975761 PMID:30976395 PMID:30980208 PMID:31050813 PMID:31056428 PMID:31090900 PMID:31118792 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31341520 PMID:31358837 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31465090 PMID:31472684 PMID:31497750 PMID:31512090 PMID:31589614 PMID:31650100 PMID:31650731 PMID:31658756 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31786208 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31867841 PMID:31871109 PMID:31871297 PMID:31874108 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32019284 PMID:32029870 PMID:32039725 PMID:32041497 PMID:32068069 PMID:32090079 PMID:32091409 PMID:32119081 PMID:32183364 PMID:32227564 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32318955 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32598223 PMID:32658311 PMID:32659967 PMID:32761968 PMID:32773770 PMID:32805687 PMID:32830346 PMID:32832836 PMID:32860008 PMID:32875559 PMID:32881420 PMID:32885271 PMID:32900738 PMID:32906215 PMID:32923877 PMID:32957588 PMID:32959997 PMID:32973888 PMID:32975687 PMID:32980694 PMID:32986223 PMID:33030641 PMID:33050356 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33193653 PMID:33257031 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33479248 PMID:33558524 PMID:33563768 PMID:33606978 PMID:33670479 PMID:33726816 PMID:33789101 PMID:33803639 PMID:33804961 PMID:33919281 PMID:33925588 PMID:33980423 PMID:33986034 PMID:34008015 PMID:34011307 PMID:34026625 PMID:34072659 PMID:34130653 PMID:34204722 PMID:34271781 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34404389 PMID:34433815 PMID:34570182 PMID:34606182 PMID:34622392 PMID:34637943 PMID:34732190 PMID:34903604 PMID:34933735 PMID:34991090 PMID:34992046 PMID:35053600 PMID:35089076 PMID:35118230 PMID:35127508 PMID:35128723 PMID:35155181 PMID:35220195 PMID:35245693 PMID:35264596 PMID:35273153 PMID:35314380 PMID:35350808 PMID:35402282 PMID:35406420 PMID:35418818 PMID:35441217 PMID:35467778 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35626031 PMID:35643632 PMID:35886069 PMID:35980532 PMID:36011273 PMID:36136322 PMID:36222830 PMID:36243179 PMID:36288950 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36521553 PMID:36551643 PMID:36653541 PMID:36833268 PMID:36845387 PMID:36988593 PMID:37031196 PMID:37055167 PMID:37065479 PMID:37149759 PMID:37239058 PMID:37449874 PMID:37490054 PMID:37628581 PMID:37725924 PMID:37842866 PMID:38061684 PMID:38153744 PMID:38520597 More...
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
G
COIL
coilin
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,231,842...33,254,357
Ensembl chr12:33,234,437...33,254,342
G
COL1A1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
G
COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
G
COPZ2
COPI coat complex subunit zeta 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,280,662...24,292,828
Ensembl chr12:24,280,665...24,292,892
G
COX11
cytochrome c oxidase copper chaperone COX11
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:31,268,397...31,277,850
Ensembl chr12:31,267,520...31,277,429
G
CPS1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:15617192 PMID:17310273 PMID:22575620 PMID:24813853 PMID:24880889 PMID:25741868 PMID:27150549 PMID:28492532 PMID:33309754 PMID:36340787 More...
NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078
G
CRHR1
corticotropin releasing hormone receptor 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CSMD3
CUB and Sushi multiple domains 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 4:24,647,864...25,871,456
Ensembl chr 4:24,648,200...25,870,856
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CTNNA1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334
G
CTNNA2
catenin alpha 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 3:63,205,073...64,417,990
Ensembl chr 3:63,205,084...63,455,471
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CUEDC1
CUE domain containing 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,141,649...34,167,731
Ensembl chr12:34,141,649...34,167,930
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DBF4B
DBF4 zinc finger B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,602,218...18,640,216
Ensembl chr12:18,603,797...18,630,543
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DCAKD
dephospho-CoA kinase domain containing
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,337,654...18,363,717
Ensembl chr12:18,344,084...18,363,713
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DGKE
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,141,439...33,172,412
Ensembl chr12:33,141,505...33,172,405
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DHX8
DEAH-box helicase 8
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859
NCBI chr12:19,549,280...19,582,090
Ensembl chr12:19,549,286...19,582,154
G
DLX3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,177,896...26,183,172
Ensembl chr12:26,177,903...26,183,157
G
DLX4
distal-less homeobox 4
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:26,155,520...26,161,310
Ensembl chr12:26,155,561...26,161,298
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DMBT1
deleted in malignant brain tumors 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:132,154,346...132,231,274
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DROSHA
drosha ribonuclease III
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr16:17,727,695...17,847,954
Ensembl chr16:17,565,137...17,848,162
G
DUSP3
dual specificity phosphatase 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,336,308...19,349,739
Ensembl chr12:19,336,354...19,349,734
G
DYNLL2
dynein light chain LC8-type 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,348,336...34,356,478
Ensembl chr12:34,349,294...34,356,472
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EED
embryonic ectoderm development
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 9:20,123,077...20,158,747
Ensembl chr 9:20,123,857...20,158,816
G
EFTUD2
elongation factor Tu GTP binding domain containing 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:11704758 PMID:15136673 PMID:15776425 PMID:16864840 PMID:19158808 PMID:25741868 PMID:25761052 PMID:27779215 PMID:28492532 PMID:29933199 PMID:35389136 More...
NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304
G
EME1
essential meiotic structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,670,126...26,680,097
Ensembl chr12:26,670,176...26,680,601
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ENO2
enolase 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410
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EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
G
EPCAM
epithelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:32566746
NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
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EPN3
epsin 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:26,812,653...26,825,485
Ensembl chr12:26,815,461...26,825,482
G
EPX
eosinophil peroxidase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,486,139...34,498,879
Ensembl chr12:34,486,144...34,498,875
G
ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
G
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:11,495,297...11,532,898
G
ETV4
ETS variant transcription factor 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4
ClinVar
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859
NCBI chr12:19,531,507...19,548,303
Ensembl chr12:19,531,603...19,548,301
G
EXO1
exonuclease 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr10:15,317,555...15,360,593
Ensembl chr10:15,317,581...15,359,839
G
EYA2
EYA transcriptional coactivator and phosphatase 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr17:48,930,682...49,243,789
Ensembl chr17:48,966,814...49,243,739
G
FAM117A
family with sequence similarity 117 member A
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:25,890,871...25,945,436
Ensembl chr12:25,890,775...25,945,442
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FAM171A2
family with sequence similarity 171 member A2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:18,881,449...18,893,661
Ensembl chr12:18,881,355...18,893,662
G
FAN1
FANCD2 and FANCI associated nuclease 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:143,919,695...143,961,678
Ensembl chr 1:143,913,551...143,961,646
G
FANCC
FA complementation group C
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:32566746
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
G
FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:17436244 PMID:21356188 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
G
FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
G
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:26689913 PMID:28492532 PMID:28881617 PMID:29760528 PMID:31428572 PMID:31921681 PMID:32566746 PMID:33471991 PMID:36534659 More...
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
G
FEN1
flap structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
G
FIGLA
folliculogenesis specific bHLH transcription factor
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 3:71,709,580...71,723,760
Ensembl chr 3:71,709,681...71,723,699
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FLCN
folliculin
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr12:61,029,186...61,045,400
Ensembl chr12:61,031,157...61,045,392
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FLNA
filamin A
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992
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FMNL1
formin like 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,198,764...18,225,621
Ensembl chr12:18,198,769...18,225,365
G
FNDC8
fibronectin type III domain containing 8
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4
ClinVar
PMID:25741868
NCBI chr12:40,045,721...40,052,637
Ensembl chr12:40,045,094...40,052,597
G
FOXD1
forkhead box D1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 2:82,607,113...82,612,005
Ensembl chr 2:82,607,848...82,609,248
G
FOXL2
forkhead box L2
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:24728327
NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
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FRY
FRY microtubule binding protein
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4
ClinVar
NCBI chr11:8,518,514...8,765,089
Ensembl chr11:8,518,715...8,763,899
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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FZD2
frizzled class receptor 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420
G
G6PC3
glucose-6-phosphatase catalytic subunit 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,121,540...19,126,291
Ensembl chr12:19,121,544...19,126,295
G
GDF9
growth differentiation factor 9
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026
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GFAP
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
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GIP
gastric inhibitory polypeptide
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940
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GJC1
gap junction protein gamma 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,526,060...18,560,221
Ensembl chr12:18,526,595...18,560,218
G
GOSR2
golgi SNAP receptor complex member 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
G
GPATCH8
G-patch domain containing 8
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,776,504...18,856,479
Ensembl chr12:18,776,560...18,856,566
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GPHN
gephyrin
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455
G
GPSM2
G protein signaling modulator 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:20602914 PMID:22578326 PMID:25741868 PMID:32747562
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
G
GRN
granulin precursor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
G
HDAC5
histone deacetylase 5
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,077,910...19,119,463
Ensembl chr12:19,078,005...19,121,154
G
HERPUD1
homocysteine inducible ER protein with ubiquitin like domain 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:18,901,171...18,913,427
Ensembl chr 6:18,901,297...18,913,424
G
HEXIM1
HEXIM P-TEFb complex subunit 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,267,023...18,270,089
Ensembl chr12:18,267,027...18,269,165
G
HEXIM2
HEXIM P-TEFb complex subunit 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,251,424...18,263,032
Ensembl chr12:18,251,428...18,258,295
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HFM1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 4:125,522,300...125,614,296
Ensembl chr 4:125,522,334...125,606,882
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HIGD1B
HIG1 hypoxia inducible domain family member 1B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,515,433...18,523,152
Ensembl chr12:18,515,427...18,522,810
G
HLF
HLF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:31,589,337...31,643,595
Ensembl chr12:31,589,337...31,643,594
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HOXB1
homeobox B1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,784,953...24,786,377
Ensembl chr12:24,784,594...24,786,576
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HOXB13
homeobox B13
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:8756292 PMID:15964834 PMID:17138648 PMID:22236224 PMID:22714738 PMID:22781434 PMID:22841674 PMID:22853031 PMID:23064873 PMID:23292082 PMID:23457453 PMID:23518396 PMID:24026887 PMID:25206306 PMID:25629170 PMID:25741868 PMID:26108461 PMID:26467025 PMID:26517352 PMID:26845104 PMID:27153395 PMID:27424772 PMID:27626483 PMID:27902461 PMID:28050579 PMID:28492532 PMID:28798948 PMID:30527799 PMID:30560549 PMID:32546843 PMID:38922859 More...
NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,687...24,950,714
G
HOXB2
homeobox B2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,796,786...24,800,499
Ensembl chr12:24,797,225...24,799,303
G
HOXB3
homeobox B3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,803,119...24,827,557
Ensembl chr12:24,804,647...24,809,937
G
HOXB5
homeobox B5
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,845,224...24,849,639
Ensembl chr12:24,845,225...24,847,918
G
HOXB6
homeobox B6
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,849,741...24,853,494
Ensembl chr12:24,849,742...24,852,286
G
HOXB7
homeobox B7
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,861,165...24,864,675
Ensembl chr12:24,861,174...24,864,620
G
HOXB8
homeobox B8
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,865,985...24,879,706
Ensembl chr12:24,865,984...24,868,930
G
HROB
homologous recombination factor with OB-fold
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,044,569...19,077,877
Ensembl chr12:19,044,043...19,077,829
G
HSF5
heat shock transcription factor 5
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,696,231...34,744,536
Ensembl chr12:34,698,497...34,744,554
G
ID3
inhibitor of DNA binding 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,546...81,424,075
G
IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272
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INSL6
insulin like 6
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479
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ITGA2B
integrin subunit alpha 2b
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,860,739...18,877,381
Ensembl chr12:18,860,739...18,877,381
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ITGA3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324
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ITGB3
integrin subunit beta 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292
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JAK2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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KANSL1
KAT8 regulatory NSL complex subunit 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916
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KASH5
KASH domain containing 5
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:35708642
NCBI chr 6:54,476,989...54,501,099
Ensembl chr 6:54,477,058...54,500,887
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KAT7
lysine acetyltransferase 7
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,970,966...26,005,006
Ensembl chr12:25,970,962...26,008,302
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KIF18B
kinesin family member 18B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,426,828...18,448,214
Ensembl chr12:18,426,835...18,448,208
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KIF2B
kinesin family member 2B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:30,161,677...30,163,731
Ensembl chr12:30,161,677...30,163,731
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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KPNB1
karyopherin subunit beta 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:23,915,783...23,945,407
Ensembl chr12:23,916,164...23,944,588
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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KRT19
keratin 19
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107
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LASP1
LIM and SH3 protein 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr12:23,222,706...23,267,209
Ensembl chr12:23,222,708...23,267,855
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LCP1
lymphocyte cytosolic protein 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr11:21,126,504...21,223,543
Ensembl chr11:21,126,539...21,223,550
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LEPROTL1
leptin receptor overlapping transcript like 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr15:54,916,037...54,929,858
Ensembl chr15:54,916,038...54,929,762
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LOC100513817
olfactory receptor 4D2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,407,732...34,408,667
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LOC100517129
nuclear body protein SP140-like protein
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr15:131,299,923...131,381,253
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LOC100621521
ABI gene family member 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3
ClinVar
PMID:38922859
NCBI chr12:25,426,116...25,441,309
G
LOC100624995
EF-hand calcium-binding domain-containing protein 13-like
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:16,595,822...16,679,453
Ensembl chr12:16,596,550...16,674,982
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LOC100738832
olfactory receptor 4D1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,420,306...34,421,241
Ensembl chr12:34,420,306...34,421,241
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LOC102167255
leukemia inhibitory factor receptor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854
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LOC110255211
guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,334,619...25,340,775
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LPO
lactoperoxidase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,525,113...34,554,031
Ensembl chr12:34,525,127...34,554,176
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LRP12
LDL receptor related protein 12
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 4:32,701,830...32,783,391
Ensembl chr 4:32,701,835...32,783,390
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LRRC41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:165,134,682...165,156,915
Ensembl chr 6:165,134,690...165,156,911
G
LRRC46
leucine rich repeat containing 46
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,083,182...24,089,663
Ensembl chr12:24,083,221...24,089,662
G
LRRC59
leucine rich repeat containing 59
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279
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LSM12
LSM12 homolog
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,128,630...19,154,687
Ensembl chr12:19,128,654...19,152,684
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LUC7L3
LUC7 like 3 pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,004,894...27,032,156
Ensembl chr12:27,021,480...27,035,233
G
MAFG
MAF bZIP transcription factor G
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr12:1,069,074...1,078,081
Ensembl chr12:1,071,632...1,074,688
G
MAP3K14
mitogen-activated protein kinase kinase kinase 14
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,142,899...18,182,931
Ensembl chr12:18,142,952...18,182,928
G
MAPT
microtubule associated protein tau
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
G
MBTD1
mbt domain containing 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,450,809...27,526,412
Ensembl chr12:27,450,806...27,526,194
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MED28
mediator complex subunit 28
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 8:12,624,096...12,633,251
Ensembl chr 8:12,624,109...12,635,334
G
MEIOC
meiosis specific with coiled-coil domain
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,652,582...18,663,227
Ensembl chr12:18,651,511...18,671,987
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MELK
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589
G
MEN1
menin 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:22936661 PMID:25741868 PMID:28492532 PMID:29036195
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
G
MEOX1
mesenchyme homeobox 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,431,397...19,452,430
Ensembl chr12:19,431,420...19,451,993
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MIR10A
microRNA mir-10a
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
G
MIR152
microRNA mir-152
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
G
MIR196A-1
microRNA mir-196a-1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,886,316...24,886,395
Ensembl chr12:24,886,307...24,886,408
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MITF
melanocyte inducing transcription factor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
G
MKS1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187
G
MLH1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:1756143 PMID:2357243 PMID:7757073 PMID:8571956 PMID:8574961 PMID:8581513 PMID:8592341 PMID:8797773 PMID:08808596 PMID:8872463 PMID:8993976 PMID:9052445 PMID:9071575 PMID:9087566 PMID:9234704 PMID:9298827 PMID:9311737 PMID:9322509 PMID:9326924 PMID:9419403 PMID:9506527 PMID:9526167 PMID:9536098 PMID:9611074 PMID:9697702 PMID:9718327 PMID:9833759 PMID:9927033 PMID:10037723 PMID:10323887 PMID:10348818 PMID:10386556 PMID:10389971 PMID:10413423 PMID:10446963 PMID:10448273 PMID:10495924 PMID:10573010 PMID:10601588 PMID:10612827 PMID:10671064 PMID:10709098 PMID:10713887 PMID:10732761 PMID:10793088 PMID:10861474 PMID:10874307 PMID:10956410 PMID:11015456 PMID:11112663 PMID:11139242 PMID:11151427 PMID:11304573 PMID:11342971 PMID:11343035 PMID:11369138 PMID:11376800 PMID:11524701 PMID:11555625 PMID:11601928 PMID:11606497 PMID:11726306 PMID:11781295 PMID:11793442 PMID:11839723 PMID:11879922 PMID:11920458 PMID:11920650 PMID:11948175 PMID:12011148 PMID:12070261 PMID:12095971 PMID:12173039 PMID:12362047 PMID:12377806 PMID:12386821 PMID:12419761 PMID:12513688 PMID:12547705 PMID:12624141 PMID:12655568 PMID:12810663 PMID:14512394 PMID:14514376 PMID:14635101 PMID:14688830 PMID:15099349 PMID:15184898 PMID:15222003 PMID:15254659 PMID:15340264 PMID:15342696 PMID:15365995 PMID:15475387 PMID:15520370 PMID:15613555 PMID:15655560 PMID:15713769 PMID:15765394 PMID:15849733 PMID:15864295 PMID:15872200 PMID:15926618 PMID:15942939 PMID:15943554 PMID:15955785 PMID:15991064 PMID:15996210 PMID:16083711 PMID:16203774 PMID:16216036 PMID:16338176 PMID:16341550 PMID:16395668 PMID:16425354 PMID:16451135 PMID:16685411 PMID:16736289 PMID:16769400 PMID:16885385 PMID:16929514 PMID:16955466 PMID:16963262 PMID:16995940 PMID:17011982 PMID:17074586 PMID:17117178 PMID:17135187 PMID:17192056 PMID:17199584 PMID:17210669 PMID:17370310 PMID:17417778 PMID:17453009 PMID:17510385 PMID:17569143 PMID:17576681 PMID:17594722 PMID:17889038 PMID:18033691 PMID:18069769 PMID:18094436 PMID:18307539 PMID:18325052 PMID:18373977 PMID:18383312 PMID:18415027 PMID:18518984 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18709565 PMID:18726168 PMID:18792805 PMID:18931482 PMID:18990764 PMID:19117025 PMID:19224586 PMID:19250818 PMID:19267393 PMID:19389263 PMID:19419416 PMID:19504447 PMID:19526325 PMID:19665066 PMID:19669161 PMID:19690142 PMID:19731080 PMID:19863800 PMID:20020535 PMID:20045164 PMID:20052760 PMID:20176959 PMID:20223024 PMID:20459533 PMID:20473912 PMID:20533529 PMID:20924129 PMID:20978114 PMID:20978117 PMID:21056691 PMID:21064154 PMID:21120944 PMID:21153778 PMID:21155023 PMID:21239990 PMID:21247423 PMID:21311894 PMID:21387278 PMID:21404117 PMID:21520333 PMID:21598002 PMID:21671475 PMID:21681552 PMID:21868491 PMID:21901500 PMID:22136435 PMID:22216297 PMID:22252508 PMID:22290698 PMID:22691310 PMID:22703879 PMID:22736432 PMID:22753075 PMID:22843852 PMID:22875147 PMID:22949379 PMID:22949387 PMID:22995991 PMID:23047549 PMID:23329266 PMID:23354017 PMID:23403630 PMID:23431106 PMID:23523604 PMID:23573243 PMID:23588873 PMID:23695190 PMID:23729658 PMID:23741719 PMID:23760103 PMID:24033266 PMID:24055113 PMID:24090359 PMID:24096645 PMID:24278394 PMID:24323032 PMID:24344984 PMID:24362816 PMID:24383517 PMID:24456667 PMID:24549055 PMID:24689082 PMID:24710284 PMID:24728327 PMID:24743384 PMID:24918944 PMID:24933000 PMID:24953332 PMID:25085752 PMID:25110875 PMID:25115387 PMID:25133505 PMID:25157968 PMID:25186627 PMID:25338684 PMID:25430799 PMID:25477341 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25762362 PMID:25823662 PMID:25871441 PMID:25882375 PMID:25980754 PMID:26010451 PMID:26053027 PMID:26078562 PMID:26096739 PMID:26206375 PMID:26247049 PMID:26247079 PMID:26248088 PMID:26249686 PMID:26300997 PMID:26332594 PMID:26333163 PMID:26467025 PMID:26485756 PMID:26510091 PMID:26552419 PMID:26580448 PMID:26637282 PMID:26659599 PMID:26681312 PMID:26761715 PMID:26811195 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26900293 PMID:26976419 PMID:27093186 PMID:27153395 PMID:27173243 PMID:27300758 PMID:27363726 PMID:27435373 PMID:27443514 PMID:27487738 PMID:27527004 PMID:27535758 PMID:27553368 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27696107 PMID:27732944 PMID:27831900 PMID:28090092 PMID:28445943 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28495237 PMID:28514183 PMID:28526081 PMID:28591715 PMID:28724667 PMID:28767289 PMID:28822769 PMID:28873162 PMID:28874130 PMID:28888541 PMID:28932927 PMID:28944238 PMID:29050249 PMID:29192238 PMID:29360550 PMID:29419868 PMID:29472279 PMID:29505604 PMID:29506128 PMID:29520894 PMID:29575718 PMID:29752822 PMID:29785566 PMID:29845239 PMID:29887214 PMID:30093976 PMID:30262796 PMID:30267214 PMID:30306255 PMID:30309722 PMID:30504929 PMID:30521064 PMID:30578687 PMID:30623411 PMID:30850667 PMID:30982232 PMID:30998989 PMID:31068090 PMID:31118792 PMID:31127692 PMID:31159747 PMID:31273614 PMID:31273885 PMID:31332305 PMID:31386297 PMID:31391288 PMID:31422818 PMID:31470354 PMID:31666926 PMID:31697235 PMID:31784484 PMID:31867841 PMID:31882575 PMID:32068069 PMID:32081490 PMID:32133419 PMID:32206572 PMID:32255556 PMID:32295079 PMID:32547938 PMID:32566746 PMID:32601921 PMID:32634176 PMID:32635641 PMID:32659497 PMID:32710294 PMID:32719484 PMID:32832836 PMID:32885271 PMID:32980694 PMID:33181636 PMID:33309985 PMID:33468175 PMID:33471991 PMID:33821390 PMID:34172528 PMID:34250417 PMID:34326862 PMID:35171259 PMID:35264596 PMID:35449176 PMID:35451682 PMID:35467778 PMID:35475445 PMID:35713195 PMID:36054288 PMID:36243179 PMID:36356413 PMID:36531003 More...
NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
G
MMD
monocyte to macrophage differentiation associated
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:31,695,843...31,723,723
Ensembl chr12:31,695,851...31,723,712
G
MME
membrane metalloendopeptidase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:27588448 PMID:28492532 PMID:33144514 PMID:34426522 PMID:36517691 More...
NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
G
MPO
myeloperoxidase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
G
MPP2
MAGUK p55 scaffold protein 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,239,557...19,268,013
Ensembl chr12:19,239,668...19,268,011
G
MPP3
MAGUK p55 scaffold protein 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,296,437...19,322,615
Ensembl chr12:19,296,513...19,323,692
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9536098 PMID:9845372 PMID:11196167 PMID:11371508 PMID:16199547 PMID:17576681 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:23080121 PMID:23912341 PMID:24033266 PMID:24093751 PMID:24549055 PMID:24763289 PMID:24894818 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26580448 PMID:26787654 PMID:26898890 PMID:27153395 PMID:27621404 PMID:28051113 PMID:28492532 PMID:28559769 PMID:28873162 PMID:29348823 PMID:29478780 PMID:29922827 PMID:30613976 PMID:31159747 PMID:32039725 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32959997 PMID:33134171 PMID:33326660 PMID:33426167 PMID:33471991 PMID:33479248 PMID:34426522 PMID:35534704 PMID:36091175 More...
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
G
MRPL10
mitochondrial ribosomal protein L10
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,076,484...24,083,086
Ensembl chr12:24,075,632...24,083,052
G
MRPL27
mitochondrial ribosomal protein L27
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,663,884...26,670,167
Ensembl chr12:26,663,595...26,664,984
G
MRPS23
mitochondrial ribosomal protein S23
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,123,679...34,129,574
Ensembl chr12:34,122,020...34,129,548
G
MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:3616036 PMID:6096739 PMID:6951660 PMID:7726159 PMID:8613431 PMID:8700523 PMID:8872463 PMID:8993976 PMID:9259192 PMID:9298827 PMID:9311737 PMID:9536098 PMID:9559627 PMID:9611074 PMID:9621522 PMID:9709044 PMID:9718327 PMID:10024676 PMID:10077621 PMID:10080150 PMID:10422993 PMID:10469597 PMID:10573010 PMID:10612827 PMID:10777691 PMID:10812001 PMID:10978353 PMID:11179758 PMID:11606497 PMID:11870161 PMID:11879922 PMID:11920650 PMID:12070261 PMID:12124176 PMID:12132870 PMID:12200596 PMID:12362047 PMID:12419761 PMID:12522549 PMID:12537652 PMID:12547705 PMID:12624141 PMID:12658575 PMID:12792735 PMID:14499697 PMID:14512394 PMID:14514376 PMID:14574163 PMID:14594944 PMID:15046089 PMID:15075785 PMID:15235030 PMID:15254659 PMID:15340264 PMID:15350299 PMID:15365995 PMID:15520370 PMID:15527911 PMID:15689448 PMID:15849733 PMID:15855432 PMID:15872200 PMID:15996210 PMID:16203774 PMID:16216036 PMID:16237223 PMID:16327991 PMID:16341550 PMID:16379545 PMID:16395668 PMID:16408224 PMID:16425354 PMID:16451135 PMID:16534870 PMID:16574953 PMID:16614121 PMID:16636019 PMID:16736289 PMID:16885385 PMID:16929514 PMID:16995940 PMID:17011982 PMID:17095871 PMID:17101317 PMID:17192056 PMID:17350822 PMID:17531815 PMID:17555131 PMID:17576681 PMID:17594722 PMID:17720936 PMID:18033691 PMID:18257912 PMID:18325052 PMID:18383312 PMID:18406877 PMID:18415027 PMID:18561205 PMID:18566915 PMID:18636359 PMID:18726168 PMID:18772310 PMID:18781619 PMID:18822302 PMID:18951462 PMID:19117025 PMID:19267393 PMID:19389263 PMID:19419416 PMID:19669161 PMID:19685281 PMID:19690142 PMID:19760518 PMID:20007843 PMID:20010080 PMID:20043121 PMID:20176959 PMID:20223024 PMID:20301390 PMID:20388775 PMID:20587412 PMID:20672385 PMID:20965939 PMID:21056691 PMID:21120944 PMID:21153778 PMID:21155023 PMID:21225464 PMID:21239990 PMID:21309037 PMID:21520333 PMID:21528233 PMID:21615986 PMID:21642682 PMID:21671081 PMID:21788563 PMID:21926548 PMID:21943391 PMID:22006311 PMID:22039344 PMID:22102614 PMID:22179786 PMID:22283331 PMID:22290698 PMID:22581703 PMID:22703879 PMID:22739024 PMID:22949379 PMID:22949387 PMID:22995991 PMID:23047549 PMID:23526924 PMID:23573243 PMID:23690608 PMID:23729658 PMID:23733757 PMID:23741719 PMID:23760103 PMID:23960188 PMID:24033266 PMID:24040339 PMID:24055113 PMID:24078570 PMID:24326041 PMID:24362816 PMID:24396821 PMID:24506336 PMID:24710284 PMID:24728327 PMID:24735542 PMID:24763289 PMID:24933000 PMID:24953332 PMID:25032700 PMID:25085752 PMID:25107687 PMID:25110875 PMID:25117502 PMID:25133505 PMID:25142776 PMID:25186627 PMID:25318351 PMID:25326637 PMID:25420488 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25569433 PMID:25637381 PMID:25741868 PMID:25871441 PMID:25964535 PMID:25980754 PMID:25987035 PMID:26092435 PMID:26096739 PMID:26182300 PMID:26206375 PMID:26332594 PMID:26333163 PMID:26344056 PMID:26380806 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26528695 PMID:26530882 PMID:26552419 PMID:26556299 PMID:26580448 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26900293 PMID:26951660 PMID:26976419 PMID:26991699 PMID:27064304 PMID:27153395 PMID:27273229 PMID:27328445 PMID:27363726 PMID:27449771 PMID:27487738 PMID:27600092 PMID:27601186 PMID:27720647 PMID:27974047 PMID:27978560 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28202063 PMID:28466842 PMID:28492532 PMID:28494185 PMID:28514183 PMID:28526081 PMID:28537014 PMID:28580595 PMID:28640387 PMID:28765196 PMID:28828701 PMID:28874130 PMID:29050249 PMID:29192238 PMID:29212164 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29506494 PMID:29641532 PMID:29659569 PMID:29684080 PMID:29731845 PMID:29752822 PMID:29769598 PMID:29887214 PMID:29945567 PMID:30089731 PMID:30093976 PMID:30238922 PMID:30267214 PMID:30306255 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30504929 PMID:30521064 PMID:30613976 PMID:30798936 PMID:30850667 PMID:30883245 PMID:30982232 PMID:30998989 PMID:31054147 PMID:31111311 PMID:31159747 PMID:31237724 PMID:31297992 PMID:31307542 PMID:31332305 PMID:31360874 PMID:31386297 PMID:31391288 PMID:31396961 PMID:31422574 PMID:31512090 PMID:31569399 PMID:31660093 PMID:31666926 PMID:31857677 PMID:31970404 PMID:32019277 PMID:32068069 PMID:32075053 PMID:32255556 PMID:32295079 PMID:32443704 PMID:32459922 PMID:32566746 PMID:32634176 PMID:32635641 PMID:32652087 PMID:32658311 PMID:32719484 PMID:32741062 PMID:32809219 PMID:32926152 PMID:32941469 PMID:32957588 PMID:32980694 PMID:32994724 PMID:33294277 PMID:33309985 PMID:33326660 PMID:33357406 PMID:33471991 PMID:33580181 PMID:33630411 PMID:33848333 PMID:33980423 PMID:34039291 PMID:34117267 PMID:34127009 PMID:34204722 PMID:34250417 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34570441 PMID:34837403 PMID:35245693 PMID:35263119 PMID:35264596 PMID:35449176 PMID:35884469 PMID:36135357 PMID:36243179 PMID:36845387 PMID:37262986 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
G
MSH4
mutS homolog 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:35090489
NCBI chr 6:137,410,820...137,524,459
Ensembl chr 6:137,410,691...137,534,233
G
MSH5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 7:23,852,864...23,872,760
Ensembl chr 7:23,852,918...23,872,760
G
MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9307272 PMID:9354786 PMID:9510473 PMID:9929971 PMID:10413423 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10612827 PMID:10675480 PMID:11153917 PMID:11470537 PMID:11586295 PMID:11709755 PMID:11900875 PMID:12019211 PMID:12376507 PMID:12522549 PMID:12537658 PMID:12658575 PMID:14520694 PMID:14871975 PMID:15184898 PMID:15236168 PMID:15340264 PMID:15365995 PMID:15483016 PMID:15782118 PMID:15805151 PMID:15837969 PMID:15872200 PMID:16010685 PMID:16034045 PMID:16203774 PMID:16237223 PMID:16270383 PMID:16341805 PMID:16418736 PMID:16525781 PMID:16636019 PMID:16807412 PMID:16813607 PMID:16885385 PMID:16929514 PMID:16940983 PMID:17082796 PMID:17095871 PMID:17117178 PMID:17344846 PMID:17417778 PMID:17453009 PMID:17531815 PMID:17594722 PMID:17854147 PMID:18033691 PMID:18067074 PMID:18269114 PMID:18301448 PMID:18409202 PMID:18415027 PMID:18566915 PMID:18790734 PMID:18809606 PMID:19072991 PMID:19250818 PMID:19389263 PMID:19575290 PMID:19685281 PMID:19851887 PMID:19924528 PMID:20028993 PMID:20045164 PMID:20176959 PMID:20301390 PMID:20487569 PMID:20531397 PMID:20587412 PMID:21039432 PMID:21056691 PMID:21120944 PMID:21153778 PMID:21155762 PMID:21239990 PMID:21437237 PMID:21642682 PMID:21674763 PMID:21836479 PMID:22006311 PMID:22081473 PMID:22102614 PMID:22250089 PMID:22283331 PMID:22290698 PMID:22495361 PMID:22581703 PMID:22703879 PMID:22766992 PMID:22810696 PMID:22851212 PMID:22949379 PMID:22949387 PMID:23047549 PMID:23104009 PMID:23523604 PMID:23621914 PMID:23755103 PMID:23757202 PMID:24033266 PMID:24040339 PMID:24055113 PMID:24068316 PMID:24100870 PMID:24362816 PMID:24448499 PMID:24689082 PMID:24710284 PMID:24728327 PMID:24763289 PMID:24933000 PMID:24989436 PMID:25085752 PMID:25110875 PMID:25117503 PMID:25186627 PMID:25194673 PMID:25231023 PMID:25318681 PMID:25326637 PMID:25479140 PMID:25503501 PMID:25536104 PMID:25559809 PMID:25561518 PMID:25637381 PMID:25670083 PMID:25741868 PMID:25871441 PMID:25980754 PMID:25985138 PMID:26046366 PMID:26181448 PMID:26206375 PMID:26214590 PMID:26300997 PMID:26318770 PMID:26332594 PMID:26333163 PMID:26437257 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26552419 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26832770 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26900293 PMID:26976419 PMID:27028851 PMID:27153395 PMID:27273229 PMID:27294619 PMID:27363726 PMID:27380347 PMID:27398995 PMID:27601186 PMID:27696107 PMID:27854360 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28301460 PMID:28323777 PMID:28460341 PMID:28466842 PMID:28481244 PMID:28491141 PMID:28492532 PMID:28502729 PMID:28514183 PMID:28523262 PMID:28531214 PMID:28591191 PMID:28724667 PMID:28767289 PMID:28873162 PMID:28874130 PMID:28878254 PMID:28888541 PMID:28944238 PMID:29044863 PMID:29212164 PMID:29245953 PMID:29338689 PMID:29345684 PMID:29368341 PMID:29442399 PMID:29575718 PMID:29641532 PMID:29684080 PMID:29752822 PMID:29758562 PMID:29785566 PMID:29887214 PMID:29922827 PMID:29945567 PMID:30093976 PMID:30122538 PMID:30128536 PMID:30147880 PMID:30159786 PMID:30267214 PMID:30283497 PMID:30306255 PMID:30322717 PMID:30376427 PMID:30387329 PMID:30521064 PMID:30575961 PMID:30612635 PMID:30787465 PMID:30982232 PMID:31054147 PMID:31102422 PMID:31159747 PMID:31297992 PMID:31307542 PMID:31386297 PMID:31391288 PMID:31447099 PMID:31470354 PMID:31501241 PMID:31589614 PMID:31604779 PMID:31647837 PMID:31660093 PMID:31666926 PMID:31783044 PMID:31830689 PMID:31845022 PMID:31857677 PMID:31965077 PMID:31970404 PMID:31997046 PMID:32029870 PMID:32060697 PMID:32068069 PMID:32091409 PMID:32141610 PMID:32255556 PMID:32295079 PMID:32427313 PMID:32449172 PMID:32547938 PMID:32566746 PMID:32620917 PMID:32635641 PMID:32658311 PMID:32660107 PMID:32664968 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32832836 PMID:32854451 PMID:32906206 PMID:32973888 PMID:32980694 PMID:33087929 PMID:33309985 PMID:33471991 PMID:33563768 PMID:33867526 PMID:34088725 PMID:34172528 PMID:34178123 PMID:34197922 PMID:34250417 PMID:34271781 PMID:34308104 PMID:34359559 PMID:34371384 PMID:34445333 PMID:34519692 PMID:34637943 PMID:34848827 PMID:35128723 PMID:35171259 PMID:35264596 PMID:35449176 PMID:35467778 PMID:35535697 PMID:35725860 PMID:35884469 PMID:35904628 PMID:36230473 PMID:36243179 PMID:36387226 PMID:36793599 PMID:36988593 PMID:37854294 PMID:38789506 More...
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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MSI2
musashi RNA binding protein 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:33,537,163...33,974,845
Ensembl chr12:33,537,196...33,975,548
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MTMR10
myotubularin related protein 10
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:143,867,746...143,917,881
Ensembl chr 1:143,867,839...143,917,878
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MTMR4
myotubularin related protein 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,745,232...34,771,315
Ensembl chr12:34,745,236...34,771,167
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
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MYCBPAP
MYCBP associated protein
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,791,710...26,811,617
Ensembl chr12:26,791,942...26,811,610
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MYL4
myosin light chain 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:16,774,655...16,792,213
Ensembl chr12:16,775,471...16,792,213
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MYO5A
myosin VA
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725
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MYO7A
myosin VIIA
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:21436283 PMID:23208854 PMID:23383098 PMID:24033266 PMID:25587757 PMID:25741868 PMID:26486028 PMID:26969326 PMID:27068579 PMID:27160483 PMID:28000701 PMID:28492532 PMID:30245029 PMID:31152317 PMID:31589614 PMID:31964843 PMID:32795431 More...
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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NAGS
N-acetylglutamate synthase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,170,398...19,173,968
Ensembl chr12:19,169,961...19,174,747
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11325820 PMID:11953735 PMID:12123493 PMID:12353271 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14559852 PMID:14973119 PMID:15185344 PMID:15279809 PMID:15338273 PMID:16033915 PMID:16199547 PMID:16415040 PMID:16474176 PMID:16544999 PMID:16810201 PMID:17001621 PMID:17103455 PMID:17576681 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18281469 PMID:18606567 PMID:18612309 PMID:18638378 PMID:18940477 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19635536 PMID:19813148 PMID:19908051 PMID:20444919 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 PMID:22941933 PMID:22995991 PMID:23317186 PMID:23555315 PMID:23765759 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24349281 PMID:24549055 PMID:24728327 PMID:24830725 PMID:25117502 PMID:25186627 PMID:25318351 PMID:25326637 PMID:25485873 PMID:25503501 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26722329 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26898890 PMID:26976419 PMID:27150568 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28873162 PMID:29335925 PMID:29368341 PMID:29419426 PMID:29522266 PMID:29625052 PMID:29678143 PMID:29785153 PMID:30287823 PMID:30306255 PMID:30426508 PMID:30441849 PMID:30564542 PMID:30590007 PMID:30651582 PMID:30942098 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31415627 PMID:31666926 PMID:32068069 PMID:32295079 PMID:32566746 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33050356 PMID:33309985 PMID:33471974 PMID:33471991 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34250417 PMID:34284872 PMID:34439939 PMID:34544220 PMID:34994648 PMID:35264596 PMID:35309086 PMID:36346689 PMID:36451132 PMID:36568162 More...
NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
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NBR1
NBR1 autophagy cargo receptor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859
NCBI chr12:19,755,733...19,789,014
Ensembl chr12:19,755,738...19,788,960
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NCAM1
neural cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NEK3
NIMA related kinase 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
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NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,622,728...179,671,225
Ensembl chr 1:179,622,755...179,670,996
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9691142 PMID:10336779 PMID:11857752 PMID:12807981 PMID:15146469 PMID:21520333 PMID:23913538 PMID:24789688 PMID:25741868 PMID:26467025 PMID:26489445 PMID:26510091 PMID:28492532 PMID:29089047 PMID:30287823 PMID:31370276 PMID:32566746 PMID:33471991 PMID:35091509 PMID:35264596 More...
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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NFE2L1
NFE2 like bZIP transcription factor 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,303,381...24,316,765
Ensembl chr12:24,303,399...24,316,763
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NFKB2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,169
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NGFR
nerve growth factor receptor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NME1
NME/NM23 nucleoside diphosphate kinase 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,027
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NMT1
N-myristoyltransferase 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,303,371...18,337,440
Ensembl chr12:18,303,375...18,337,446
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NOBOX
NOBOX oogenesis homeobox
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:17701902
NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502
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NOG
noggin
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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NOTCH2
notch receptor 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
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NPEPPS
aminopeptidase puromycin sensitive
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:23,804,839...23,892,055
Ensembl chr12:23,799,425...23,892,051
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NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:22028768 PMID:22907560 PMID:23154282 PMID:25122490 PMID:25383892 PMID:25741868 PMID:27169744 PMID:28492532 PMID:30425642 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
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NSF
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,458,996...17,624,335
Ensembl chr12:17,459,077...17,705,351
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NXPH3
neurexophilin 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,769,174...25,774,039
Ensembl chr12:25,769,256...25,774,031
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OSBPL7
oxysterol binding protein like 7
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,059,128...24,075,102
Ensembl chr12:24,059,124...24,076,109
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PAK4
p21 (RAC1) activated kinase 4
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:47,869,604...47,914,185
Ensembl chr 6:47,869,577...47,914,182
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PALB2
partner and localizer of BRCA2
susceptibility
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar OMIM
PMID:100849 PMID:3347191 PMID:9536098 PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 PMID:17420451 PMID:17576681 PMID:18053174 PMID:18288683 PMID:18302019 PMID:18446436 PMID:18628482 PMID:18794107 PMID:18987736 PMID:19264984 PMID:19333784 PMID:19369211 PMID:19383810 PMID:19423707 PMID:19584259 PMID:19609323 PMID:19635604 PMID:19763884 PMID:19863560 PMID:20091115 PMID:20122277 PMID:20153123 PMID:20180015 PMID:20412113 PMID:20582465 PMID:20589654 PMID:20722467 PMID:20852946 PMID:20858716 PMID:20927582 PMID:21113654 PMID:21165770 PMID:21182766 PMID:21184274 PMID:21279724 PMID:21285249 PMID:21356067 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21932393 PMID:21947752 PMID:22006311 PMID:22052327 PMID:22241545 PMID:22310028 PMID:22692731 PMID:22995991 PMID:23110154 PMID:23302520 PMID:23341105 PMID:23448497 PMID:23471749 PMID:23555315 PMID:23561644 PMID:23787919 PMID:23824750 PMID:23934222 PMID:23935381 PMID:23935836 PMID:23941127 PMID:23977390 PMID:24033266 PMID:24061862 PMID:24082139 PMID:24136930 PMID:24141787 PMID:24153426 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24485656 PMID:24549055 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:24998779 PMID:25085752 PMID:25099575 PMID:25117502 PMID:25186627 PMID:25225064 PMID:25225577 PMID:25330149 PMID:25356972 PMID:25428789 PMID:25447460 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25575445 PMID:25619955 PMID:25666743 PMID:25741868 PMID:25794774 PMID:25897114 PMID:25959805 PMID:25980754 PMID:26057125 PMID:26083025 PMID:26094658 PMID:26206375 PMID:26250988 PMID:26270727 PMID:26283626 PMID:26296701 PMID:26315354 PMID:26328243 PMID:26411315 PMID:26467025 PMID:26483394 PMID:26485759 PMID:26489409 PMID:26534844 PMID:26541979 PMID:26556299 PMID:26564480 PMID:26580448 PMID:26635394 PMID:26640152 PMID:26641009 PMID:26649820 PMID:26681312 PMID:26689913 PMID:26692951 PMID:26720728 PMID:26740942 PMID:26786923 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26911350 PMID:26968956 PMID:26976419 PMID:27038244 PMID:27067391 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27328445 PMID:27397723 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27469594 PMID:27516001 PMID:27553368 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27631815 PMID:27701467 PMID:27783279 PMID:27798748 PMID:27829436 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28135048 PMID:28135145 PMID:28152038 PMID:28158555 PMID:28166811 PMID:28194609 PMID:28279176 PMID:28281021 PMID:28319063 PMID:28380452 PMID:28423363 PMID:28440294 PMID:28486781 PMID:28492532 PMID:28528518 PMID:28580595 PMID:28591191 PMID:28664506 PMID:28678401 PMID:28681041 PMID:28709830 PMID:28717660 PMID:28724667 PMID:28767289 PMID:28779002 PMID:28796317 PMID:28825143 PMID:28828701 PMID:28864920 PMID:28873162 PMID:28888541 PMID:28944238 PMID:28975465 PMID:29052111 PMID:29093764 PMID:29190888 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29387807 PMID:29431189 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29506128 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29785153 PMID:29802286 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29961768 PMID:29982661 PMID:30054569 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30128536 PMID:30192042 PMID:30254378 PMID:30255452 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309218 PMID:30322717 PMID:30337689 PMID:30344923 PMID:30374176 PMID:30441849 PMID:30447919 PMID:30472649 PMID:30521987 PMID:30541756 PMID:30552643 PMID:30638972 PMID:30651582 PMID:30665703 PMID:30680046 PMID:30715675 PMID:30720863 PMID:30792206 PMID:30833416 PMID:30883245 PMID:30890586 PMID:30949167 PMID:30982232 PMID:30995915 PMID:31089269 PMID:31090900 PMID:31125277 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31312277 PMID:31422574 PMID:31428676 PMID:31447099 PMID:31467304 PMID:31481248 PMID:31570822 PMID:31586400 PMID:31589614 PMID:31619740 PMID:31636395 PMID:31642931 PMID:31666926 PMID:31757951 PMID:31768816 PMID:31786208 PMID:31794323 PMID:31841383 PMID:31843900 PMID:31844177 PMID:31871297 PMID:31921681 PMID:31942411 PMID:32019277 PMID:32041954 PMID:32068069 PMID:32081490 PMID:32133419 PMID:32238468 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32339256 PMID:32365798 PMID:32426482 PMID:32427313 PMID:32531196 PMID:32546565 PMID:32554798 PMID:32561490 PMID:32566746 PMID:32581362 PMID:32658311 PMID:32659497 PMID:32728620 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32885271 PMID:32947577 PMID:32980694 PMID:32997802 PMID:33113089 PMID:33120919 PMID:33127389 PMID:33134171 PMID:33139182 PMID:33169439 PMID:33195396 PMID:33309985 PMID:33471991 PMID:33512806 PMID:33646313 PMID:33674644 PMID:33811135 PMID:33910496 PMID:33917078 PMID:33964450 PMID:33980423 PMID:34026625 PMID:34113003 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34357101 PMID:34399810 PMID:34439348 PMID:34608183 PMID:34793666 PMID:34846068 PMID:34946951 PMID:35089076 PMID:35171259 PMID:35263119 PMID:35264596 PMID:35610400 PMID:35626031 PMID:35676859 PMID:35762214 PMID:35806449 PMID:36243179 PMID:36605468 PMID:36988593 PMID:37239058 PMID:37415201 More...
NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
G
PAX7
paired box 7
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415
G
PCSK7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484
G
PCTP
phosphatidylcholine transfer protein
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:32,043,841...32,089,977
G
PDGFB
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
Ensembl chr 5:8,986,462...9,007,435
G
PDK2
pyruvate dehydrogenase kinase 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,274,562...26,295,787
Ensembl chr12:26,274,606...26,301,878
G
PGRMC1
progesterone receptor membrane component 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr X:97,735,402...97,743,424
Ensembl chr X:97,735,244...97,743,423
G
PHB1
prohibitin 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706
G
PHOSPHO1
phosphoethanolamine/phosphocholine phosphatase 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,441,564...25,449,267
G
PLCD3
phospholipase C delta 3
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,281,507...18,305,516
Ensembl chr12:18,281,502...18,302,483
G
PLCG1
phospholipase C gamma 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554
G
PLEKHM1
pleckstrin homology and RUN domain containing M1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,984,169...18,035,377
Ensembl chr12:17,993,036...18,035,375
G
PLK2
polo like kinase 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,119...37,305,114
G
PMS1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:24728327 PMID:25741868
NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506
G
PMS2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:285143 PMID:2402700 PMID:2648339 PMID:2744351 PMID:7628019 PMID:9419979 PMID:9536098 PMID:9683794 PMID:10037723 PMID:10479499 PMID:10480359 PMID:11574484 PMID:12208142 PMID:12900794 PMID:14756672 PMID:15077197 PMID:15256438 PMID:15304120 PMID:15470502 PMID:15521988 PMID:16144131 PMID:16338176 PMID:16472587 PMID:16609022 PMID:16619239 PMID:16817031 PMID:16873062 PMID:17016615 PMID:17029773 PMID:17139668 PMID:17312306 PMID:17417778 PMID:17557300 PMID:17567544 PMID:17576681 PMID:18273873 PMID:18602922 PMID:19132747 PMID:19156169 PMID:19479271 PMID:19526325 PMID:20176959 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20531397 PMID:20533529 PMID:20624957 PMID:20698049 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22086678 PMID:22290698 PMID:22577899 PMID:22703879 PMID:22949379 PMID:22949387 PMID:23012243 PMID:23435383 PMID:23612316 PMID:23709753 PMID:23837913 PMID:23960188 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24326041 PMID:24351291 PMID:24362816 PMID:24549055 PMID:24689082 PMID:24728327 PMID:24897087 PMID:25006859 PMID:25142776 PMID:25186627 PMID:25194673 PMID:25326637 PMID:25345868 PMID:25430799 PMID:25479140 PMID:25503501 PMID:25512458 PMID:25525159 PMID:25567908 PMID:25637381 PMID:25741868 PMID:25856668 PMID:25871621 PMID:25938944 PMID:25964535 PMID:25980754 PMID:25986922 PMID:26110232 PMID:26116798 PMID:26163658 PMID:26232782 PMID:26247049 PMID:26318770 PMID:26333163 PMID:26416026 PMID:26437257 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26845104 PMID:26866578 PMID:26888055 PMID:26898890 PMID:26976419 PMID:27028851 PMID:27050224 PMID:27060149 PMID:27060170 PMID:27153395 PMID:27379089 PMID:27433846 PMID:27435373 PMID:27443514 PMID:27449771 PMID:27498913 PMID:27535533 PMID:27600092 PMID:27601186 PMID:27616075 PMID:27621404 PMID:27647783 PMID:27806231 PMID:27863258 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28050010 PMID:28051113 PMID:28125078 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28286799 PMID:28365877 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28494185 PMID:28503720 PMID:28514183 PMID:28528518 PMID:28591191 PMID:28596308 PMID:28617965 PMID:28726808 PMID:28765196 PMID:28873162 PMID:28874130 PMID:28888541 PMID:28975465 PMID:29286535 PMID:29300386 PMID:29333623 PMID:29360161 PMID:29368341 PMID:29570743 PMID:29596542 PMID:29597095 PMID:29625052 PMID:29659569 PMID:29684080 PMID:29785153 PMID:29875428 PMID:29887214 PMID:29945567 PMID:29946849 PMID:30013564 PMID:30067863 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30256826 PMID:30267214 PMID:30306255 PMID:30337059 PMID:30374176 PMID:30447919 PMID:30572730 PMID:30608896 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30653781 PMID:30702970 PMID:30760869 PMID:30809968 PMID:30833958 PMID:31159747 PMID:31248605 PMID:31327751 PMID:31332305 PMID:31386297 PMID:31391288 PMID:31410062 PMID:31422574 PMID:31433215 PMID:31447099 PMID:31589614 PMID:31784482 PMID:31857677 PMID:31874108 PMID:31948886 PMID:31992580 PMID:32039725 PMID:32060687 PMID:32060697 PMID:32547938 PMID:32566746 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32652087 PMID:32658311 PMID:32659967 PMID:32719484 PMID:32832836 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33120919 PMID:33193653 PMID:33258288 PMID:33359728 PMID:33453991 PMID:33471991 PMID:33504652 PMID:33510387 PMID:33821390 PMID:33850299 PMID:33881185 PMID:34115236 PMID:34172528 PMID:34271781 PMID:34284872 PMID:34326862 PMID:34371384 PMID:34680242 PMID:34820595 PMID:35089076 PMID:35171259 PMID:35189042 PMID:35223509 PMID:35263119 PMID:35264596 PMID:35372080 PMID:35402282 PMID:35430768 PMID:35449176 PMID:35475445 PMID:35535697 PMID:35982947 PMID:36134613 PMID:36165864 PMID:36243179 PMID:36356413 PMID:36360190 PMID:36446039 PMID:36743879 PMID:36790526 PMID:37296477 PMID:37536918 PMID:38552658 More...
NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
G
PNPO
pyridoxamine 5'-phosphate oxidase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,192,848...24,201,419
Ensembl chr12:24,192,897...24,201,411
G
POLQ
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:25741868
NCBI chr13:138,962,634...139,108,499
Ensembl chr13:138,978,609...139,108,500
G
POLR2C
RNA polymerase II subunit C
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116
G
PPP1R9B
protein phosphatase 1 regulatory subunit 9B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,319,123...26,337,089
Ensembl chr12:26,319,124...26,336,562
G
PPP2R2A
protein phosphatase 2 regulatory subunit Balpha
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:10,195,388...10,283,741
Ensembl chr14:10,195,351...10,284,707
G
PPY
pancreatic polypeptide
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:19,217,649...19,218,680
Ensembl chr12:19,217,806...19,218,559
G
PRR15L
proline rich 15 like
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,203,811...24,210,105
Ensembl chr12:24,204,638...24,204,940
G
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
G
PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:9619835 PMID:9788441 PMID:10076877 PMID:10400993 PMID:10555148 PMID:11108659 PMID:12372056 PMID:12844284 PMID:12938083 PMID:14566704 PMID:14623110 PMID:15689448 PMID:16598737 PMID:16773562 PMID:17427195 PMID:17942903 PMID:20395440 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21943391 PMID:21956414 PMID:22261759 PMID:22558107 PMID:22703879 PMID:23161105 PMID:23315997 PMID:23442912 PMID:23555315 PMID:23934111 PMID:24004025 PMID:24033266 PMID:24136893 PMID:24375884 PMID:24744697 PMID:24763289 PMID:25132236 PMID:25669429 PMID:25741868 PMID:25980754 PMID:26124082 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26800850 PMID:26898890 PMID:27428751 PMID:27477328 PMID:27535533 PMID:28008555 PMID:28263302 PMID:28418444 PMID:28492532 PMID:28677221 PMID:29371908 PMID:29706350 PMID:29785012 PMID:29945567 PMID:30287823 PMID:30311380 PMID:30374176 PMID:31006514 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31567591 PMID:32185379 PMID:32234455 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32566746 PMID:32959437 PMID:33471991 PMID:34268892 PMID:34793697 PMID:35264596 PMID:35931053 PMID:36988593 PMID:38028594 PMID:38645101 More...
NCBI chr14:99,929,590...100,021,619
G
PTPRK
protein tyrosine phosphatase receptor type K
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:34,693,363...35,258,699
Ensembl chr 1:34,693,368...35,258,699
G
PUM1
pumilio RNA binding family member 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,546,388...87,687,483
Ensembl chr 6:87,547,320...87,687,442
G
PUS7
pseudouridine synthase 7
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25050558 PMID:25741868 PMID:28492532 PMID:32566746
NCBI chr 9:105,424,408...105,445,667
Ensembl chr 9:105,419,056...105,445,682
G
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:32566746
NCBI chr 5:51,994,793...52,020,844
Ensembl chr 5:51,993,717...52,020,809
G
PYY
peptide YY
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,190,703...19,208,373
G
RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:16199547 PMID:16385572 PMID:18281469 PMID:19409520 PMID:23555315 PMID:24240112 PMID:24763289 PMID:24894818 PMID:25151137 PMID:25452441 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26757417 PMID:26787654 PMID:26824983 PMID:27732944 PMID:27783279 PMID:27913932 PMID:28492532 PMID:28550065 PMID:28873162 PMID:29338689 PMID:29566657 PMID:29726012 PMID:29752822 PMID:29785153 PMID:29891727 PMID:29961768 PMID:30306255 PMID:30441849 PMID:30755392 PMID:31159747 PMID:31589614 PMID:31666926 PMID:31742824 PMID:32019284 PMID:32295079 PMID:32566746 PMID:32832836 PMID:32854451 PMID:32984025 PMID:33378670 PMID:33471991 PMID:33563768 PMID:34567246 PMID:35534218 PMID:35884469 PMID:36135357 PMID:37262986 More...
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
G
RAD51
RAD51 recombinase
ISO
ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers
ClinVar
PMID:11248061 PMID:17999359 PMID:25741868
NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136
G
RAD51B
RAD51 paralog B
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:26898890 PMID:28492532 PMID:32566746
NCBI chr 7:91,592,413...92,301,383
Ensembl chr 7:91,592,424...92,345,294
G
RAD51C
RAD51 paralog C
susceptibility
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar OMIM
PMID:122156 PMID:1241858 PMID:1731253 PMID:2927873 PMID:5806449 PMID:9536098 PMID:12966089 PMID:14704354 PMID:15170666 PMID:15336628 PMID:16199547 PMID:17576681 PMID:18203022 PMID:20400963 PMID:20400964 PMID:20428093 PMID:20697805 PMID:20723205 PMID:20952512 PMID:21447597 PMID:21537932 PMID:21597919 PMID:21616938 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22538716 PMID:22725699 PMID:23117857 PMID:23176254 PMID:23438602 PMID:23500037 PMID:23704328 PMID:24082139 PMID:24139550 PMID:24141787 PMID:24240112 PMID:24315737 PMID:24359560 PMID:24504028 PMID:24549055 PMID:24631219 PMID:24800917 PMID:24993905 PMID:24998779 PMID:25085752 PMID:25086635 PMID:25154786 PMID:25186627 PMID:25292178 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25452441 PMID:25470109 PMID:25525159 PMID:25741868 PMID:25741869 PMID:25833843 PMID:25980754 PMID:26057125 PMID:26103414 PMID:26261251 PMID:26270727 PMID:26354865 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26848151 PMID:26911350 PMID:26976419 PMID:27037238 PMID:27149507 PMID:27149842 PMID:27153395 PMID:27230542 PMID:27328445 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27854218 PMID:27878467 PMID:27908594 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28281021 PMID:28492532 PMID:28528518 PMID:28588062 PMID:28649662 PMID:28678401 PMID:28709830 PMID:28726808 PMID:28767289 PMID:28796317 PMID:28802053 PMID:28829762 PMID:28864920 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28975465 PMID:29053726 PMID:29158291 PMID:29255180 PMID:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29416752 PMID:29458332 PMID:29470806 PMID:29484706 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30130155 PMID:30192042 PMID:30216591 PMID:30256826 PMID:30257646 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30426508 PMID:30515680 PMID:30551670 PMID:30613976 PMID:30651582 PMID:30680046 PMID:30772928 PMID:30847381 PMID:30875412 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30979843 PMID:30982232 PMID:31125277 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31300551 PMID:31422574 PMID:31446535 PMID:31472684 PMID:31567591 PMID:31642931 PMID:31742824 PMID:31782267 PMID:31815095 PMID:31843900 PMID:31874108 PMID:31882575 PMID:31921681 PMID:32054657 PMID:32068069 PMID:32090079 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32338768 PMID:32359370 PMID:32398771 PMID:32427313 PMID:32566746 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32809180 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32868316 PMID:32885271 PMID:32957588 PMID:32980694 PMID:32986223 PMID:33008098 PMID:33011440 PMID:33077847 PMID:33134171 PMID:33194656 PMID:33258288 PMID:33277227 PMID:33309985 PMID:33326660 PMID:33333735 PMID:33359728 PMID:33471991 PMID:33552952 PMID:33563768 PMID:33606809 PMID:33646313 PMID:33832919 PMID:33858678 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34426522 PMID:34570441 PMID:34606182 PMID:34761457 PMID:34923718 PMID:35014770 PMID:35039523 PMID:35039564 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35264596 PMID:35534704 PMID:35565380 PMID:35740625 PMID:35806449 PMID:35980532 PMID:36099300 PMID:36243179 PMID:36293153 PMID:36329109 PMID:36562461 PMID:36909564 PMID:36977404 PMID:36988593 PMID:37065479 PMID:37253112 PMID:37344589 More...
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
G
RAD54L
RAD54 like
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 6:165,156,833...165,184,641
Ensembl chr 6:165,152,978...165,184,776
G
RAF1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:17603482 PMID:17603488 PMID:20679480 PMID:22821648 PMID:24777450 PMID:24803665 PMID:25741868 PMID:26659599 PMID:28492532 PMID:29493581 More...
NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
G
RALGDS
ral guanine nucleotide dissociation stimulator
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:272,776,844...272,824,179
Ensembl chr 1:272,776,846...272,824,184
G
RECQL
RecQ like helicase
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:25915596 PMID:25945795 PMID:26467025 PMID:27125668 PMID:28492532 PMID:32165824 PMID:32546565 PMID:32566746 PMID:33471991 PMID:33563768 PMID:33649982 More...
NCBI chr 5:51,953,460...51,995,619
Ensembl chr 5:51,953,451...52,003,740
G
RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:7647787 PMID:7881414 PMID:9727738 PMID:9760196 PMID:10646792 PMID:12566528 PMID:14566559 PMID:14633923 PMID:15741265 PMID:16441254 PMID:16928683 PMID:20981092 PMID:21655256 PMID:21995290 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22995991 PMID:23084198 PMID:23527089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27884173 PMID:28492532 More...
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
G
RFC1
replication factor C subunit 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867
G
RFFL
ring finger and FYVE like domain containing E3 ubiquitin protein ligase
susceptibility
ISO
ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
OMIM ClinVar
PMID:6329717 PMID:9536098 PMID:10749867 PMID:11125122 PMID:14704354 PMID:15170666 PMID:15537659 PMID:16199547 PMID:16236763 PMID:16717288 PMID:17576681 PMID:18058226 PMID:19033885 PMID:19327148 PMID:19347880 PMID:20054644 PMID:20665887 PMID:21111057 PMID:21822267 PMID:22275364 PMID:22415235 PMID:22652533 PMID:22986143 PMID:23372765 PMID:23810717 PMID:24130102 PMID:24139550 PMID:24240112 PMID:24784581 PMID:25111073 PMID:25186627 PMID:25318351 PMID:25340522 PMID:25445424 PMID:25452441 PMID:25741868 PMID:25938944 PMID:25980754 PMID:26046366 PMID:26057125 PMID:26083025 PMID:26261251 PMID:26292667 PMID:26296696 PMID:26328243 PMID:26432245 PMID:26467025 PMID:26485759 PMID:26534844 PMID:26556299 PMID:26659639 PMID:26681310 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26720727 PMID:26720728 PMID:26764160 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26976419 PMID:26979391 PMID:27016235 PMID:27083178 PMID:27153395 PMID:27273131 PMID:27433846 PMID:27443514 PMID:27616075 PMID:27720647 PMID:27854218 PMID:27878467 PMID:27913932 PMID:27978560 PMID:28008555 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28301460 PMID:28423363 PMID:28492532 PMID:28591191 PMID:28640387 PMID:28646019 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28821472 PMID:28864920 PMID:28874143 PMID:28888541 PMID:28905878 PMID:28961279 PMID:29020732 PMID:29053726 PMID:29255180 PMID:29263802 PMID:29338689 PMID:29348823 PMID:29360550 PMID:29371908 PMID:29409816 PMID:29470806 PMID:29506128 PMID:29507080 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29753700 PMID:29758562 PMID:29778231 PMID:30086788 PMID:30093976 PMID:30103829 PMID:30111881 PMID:30165555 PMID:30192042 PMID:30257646 PMID:30306255 PMID:30322717 PMID:30374176 PMID:30441849 PMID:30613976 PMID:30623411 PMID:30651582 PMID:30706980 PMID:30836272 PMID:30927251 PMID:30980208 PMID:31007844 PMID:31159747 PMID:31206626 PMID:31248605 PMID:31300551 PMID:31341520 PMID:31575519 PMID:31589614 PMID:31642931 PMID:31802016 PMID:31843900 PMID:31844177 PMID:31911633 PMID:31922703 PMID:31948886 PMID:32008151 PMID:32068069 PMID:32107557 PMID:32242007 PMID:32255556 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32359370 PMID:32426482 PMID:32427313 PMID:32461613 PMID:32522261 PMID:32566746 PMID:32756499 PMID:32832836 PMID:32863928 PMID:32885271 PMID:32906206 PMID:32980694 PMID:33008098 PMID:33047316 PMID:33151324 PMID:33203166 PMID:33309985 PMID:33430302 PMID:33452952 PMID:33471991 PMID:33504652 PMID:33568819 PMID:33577226 PMID:33606809 PMID:33630411 PMID:33785725 PMID:33804961 PMID:33858678 PMID:33901219 PMID:33939675 PMID:34117267 PMID:34200360 PMID:34284872 PMID:34298626 PMID:34326862 PMID:34433815 PMID:34601666 PMID:34606182 PMID:34838098 PMID:34887416 PMID:34923718 PMID:35039564 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35261632 PMID:35263119 PMID:35264596 PMID:35273153 PMID:35534704 PMID:35565380 PMID:35710434 PMID:35849291 PMID:35980532 PMID:36011273 PMID:36095024 PMID:36185283 PMID:36243179 PMID:36315097 PMID:36537080 PMID:36544182 PMID:36685941 PMID:36988593 PMID:37024097 PMID:37231433 More...
NCBI chr12:40,054,175...40,072,831
Ensembl chr12:40,054,181...40,072,822
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RINT1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25050558 PMID:25741868 PMID:28492532 PMID:31204009 PMID:32566746
NCBI chr 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160
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RIPK1
receptor interacting serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 7:1,841,143...1,880,705
Ensembl chr 7:1,841,239...1,880,699
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RND2
Rho family GTPase 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
NCBI chr12:19,866,597...19,870,205
Ensembl chr12:19,866,603...19,870,211
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RNF43
ring finger protein 43
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378
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RPN1
ribophorin I
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr13:71,892,600...71,908,772
Ensembl chr13:71,892,002...71,908,932
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RPRML
reprimo like
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:17,816,889...17,818,910
Ensembl chr12:17,816,890...17,818,047
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RSAD1
radical S-adenosyl methionine domain containing 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,763,808...26,772,557
Ensembl chr12:26,764,187...26,773,020
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RUNDC3A
RUN domain containing 3A
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,920,365...18,929,766
Ensembl chr12:18,920,370...18,930,223
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RXFP2
relaxin family peptide receptor 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2
ClinVar
NCBI chr11:8,266,898...8,321,021
Ensembl chr11:8,282,517...8,321,020
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SAMD14
sterile alpha motif domain containing 14
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,295,159...26,315,548
Ensembl chr12:26,296,016...26,315,422
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SAV1
salvador family WW domain containing protein 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:180,404,871...180,434,458
Ensembl chr 1:180,406,162...180,434,196
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SCPEP1
serine carboxypeptidase 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,265,509...33,296,805
Ensembl chr12:33,265,562...33,298,142
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SCRN2
secernin 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,090,685...24,095,163
Ensembl chr12:24,090,687...24,095,130
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SEPTIN4
septin 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,772,776...34,785,176
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SETBP1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:16199547 PMID:21037274 PMID:25217958 PMID:25741868 PMID:28492532
NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017
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SGCA
sarcoglycan alpha
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600
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SKAP1
src kinase associated phosphoprotein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,371,699...24,680,280
Ensembl chr12:24,374,140...24,680,237
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SLC25A15
solute carrier family 25 member 15
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:11552031 PMID:19242930 PMID:25741868 PMID:28492532 PMID:30187369
NCBI chr11:15,494,176...15,551,172
Ensembl chr11:15,494,385...15,559,312
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SLC25A39
solute carrier family 25 member 39
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:18,913,261...18,919,761
Ensembl chr12:18,915,422...18,919,757
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SLC34A2
solute carrier family 34 member 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 8:19,481,127...19,507,903
Ensembl chr 8:19,481,198...19,509,666
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SLC35B1
solute carrier family 35 member B1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,881,832...25,888,546
Ensembl chr12:25,881,256...25,888,293
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SLC4A1
solute carrier family 4 member 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SMAD7
SMAD family member 7
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382
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SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395
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SNF8
SNF8 subunit of ESCRT-II
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,142,748...25,152,847
Ensembl chr12:25,142,813...25,153,016
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SNX11
sorting nexin 11
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,351,280...24,360,921
Ensembl chr12:24,351,390...24,360,917
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SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
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SOST
sclerostin
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,354,912...19,360,348
Ensembl chr12:19,355,234...19,360,352
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SP2
Sp2 transcription factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,154,087...24,185,898
Ensembl chr12:24,154,136...24,185,894
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SP6
Sp6 transcription factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,100,769...24,106,828
Ensembl chr12:24,100,801...24,106,792
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SPAG9
sperm associated antigen 9
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:27,225,377...27,370,337
Ensembl chr12:27,202,088...27,370,405
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SPATA20
spermatogenesis associated 20
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:26,828,688...26,838,512
Ensembl chr12:26,828,711...26,838,882
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SPATA32
spermatogenesis associated 32
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,189,577...18,192,956
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SPIDR
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 4:79,874,937...80,190,744
Ensembl chr 4:79,874,831...80,190,655
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SPOP
speckle type BTB/POZ protein
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer
ClinVar
PMID:38922859
NCBI chr12:25,792,621...25,860,630
Ensembl chr12:25,792,630...25,860,595
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SPPL2C
signal peptide peptidase like 2C
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,238,339...17,245,060
Ensembl chr12:17,240,736...17,242,823
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SRSF1
serine and arginine rich splicing factor 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:10429654 PMID:10676634 PMID:11430832 PMID:15800014 PMID:16287113 PMID:17026623 PMID:17711506 PMID:18594528 PMID:19892943 PMID:20393878 PMID:20722467 PMID:21191700 PMID:23555315 PMID:23993471 PMID:24033266 PMID:24307375 PMID:24468202 PMID:24728327 PMID:24830819 PMID:24857785 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25343854 PMID:25473901 PMID:25741868 PMID:25980754 PMID:26010451 PMID:26056085 PMID:26164066 PMID:26467025 PMID:26692440 PMID:26837502 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28577310 PMID:28821472 PMID:28873162 PMID:28977883 PMID:29338689 PMID:29748005 PMID:30287823 PMID:30426508 PMID:30455982 PMID:30982232 PMID:31269945 PMID:31871109 PMID:32566746 PMID:33471991 PMID:34284872 PMID:34326862 PMID:34439939 PMID:34849607 PMID:35171259 PMID:35264596 PMID:35534704 PMID:36243179 More...
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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STXBP4
syntaxin binding protein 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:31,277,116...31,478,828
Ensembl chr12:31,277,487...31,472,792
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SUPT4H1
SPT4 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:34,622,775...34,629,681
Ensembl chr12:34,619,729...34,629,646
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TAC4
tachykinin precursor 4
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,015,176...26,024,744
Ensembl chr12:26,015,180...26,024,661
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TACC3
transforming acidic coiled-coil containing protein 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322
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TBKBP1
TBK1 binding protein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:23,952,966...23,971,495
Ensembl chr12:23,954,605...23,971,494
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TBX21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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TDG
thymine DNA glycosylase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 5:80,473,233...80,492,295
Ensembl chr 5:80,473,234...80,492,287
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TERT
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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TES
testin LIM domain protein
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,882...29,936,233
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TEX14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:38922859
NCBI chr12:34,815,472...34,975,901
Ensembl chr12:34,815,476...34,912,766
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TFRC
transferrin receptor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
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TG
thyroglobulin
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:25741868
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
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TLX3
T cell leukemia homeobox 3
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr16:52,823,839...52,826,717
Ensembl chr16:52,823,657...52,826,804
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TMEM100
transmembrane protein 100
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:32,008,007...32,014,094
Ensembl chr12:32,008,012...32,014,009
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TMEM101
transmembrane protein 101
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,165,627...19,169,016
Ensembl chr12:19,165,425...19,169,009
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TMEM106A
transmembrane protein 106A
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859
NCBI chr12:19,747,346...19,755,586
Ensembl chr12:19,745,782...19,755,521
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TMEM92
transmembrane protein 92
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,466,613...26,472,865
Ensembl chr12:26,452,882...26,472,864
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TMUB2
transmembrane and ubiquitin like domain containing 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:19,019,641...19,024,225
Ensembl chr12:19,019,665...19,024,147
G
TNC
tenascin C
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
G
TNNT2
troponin T2, cardiac type
ISO
ClinVar Annotator: match by term: Hereditary breast and ovarian cancer
ClinVar
PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 PMID:10085122 PMID:10521296 PMID:10617660 PMID:11346248 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12860912 PMID:14640471 PMID:14722098 PMID:16115294 PMID:16326803 PMID:17612745 PMID:18029407 PMID:18403758 PMID:19880069 PMID:20414521 PMID:22321274 PMID:22334656 PMID:22579624 PMID:23233322 PMID:23494605 PMID:23711808 PMID:24033266 PMID:24510615 PMID:25741868 PMID:26507537 PMID:28492532 PMID:28615295 PMID:29572196 More...
NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
G
TOB1
transducer of ERBB2, 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,116,579...27,119,906
Ensembl chr12:27,116,584...27,117,614
G
TOM1L1
target of myb1 like 1 membrane trafficking protein
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:31,207,373...31,271,069
Ensembl chr12:31,207,621...31,272,775
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1918170 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2750177 PMID:2932480 PMID:3471991 PMID:7478555 PMID:7599045 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7732013 PMID:7791795 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8075648 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8276238 PMID:8336941 PMID:8352280 PMID:8423216 PMID:8425176 PMID:8527048 PMID:8700525 PMID:8718514 PMID:8825920 PMID:9067756 PMID:9150393 PMID:9207066 PMID:9242456 PMID:9285560 PMID:9290701 PMID:9301461 PMID:9399838 PMID:9446663 PMID:9470817 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9582268 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9704931 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10435620 PMID:10486318 PMID:10497279 PMID:10519380 PMID:10519384 PMID:10629033 PMID:10706125 PMID:10777217 PMID:10780666 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12019170 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12524418 PMID:12567188 PMID:12672316 PMID:12700230 PMID:12826609 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14612556 PMID:14639659 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15077194 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15489903 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15659650 PMID:15722483 PMID:15741269 PMID:15756275 PMID:15781620 PMID:15851479 PMID:15925506 PMID:15951970 PMID:15982667 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16199549 PMID:16258005 PMID:16337994 PMID:16401470 PMID:16437140 PMID:16489069 PMID:16494995 PMID:16644204 PMID:16682957 PMID:16736287 PMID:16750598 PMID:16818505 PMID:16821082 PMID:16861262 PMID:16933305 PMID:16941491 PMID:16964264 PMID:17015838 PMID:17133269 PMID:17301252 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17417627 PMID:17427234 PMID:17436385 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17557566 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17683073 PMID:17690113 PMID:17724467 PMID:17727479 PMID:17881637 PMID:17940213 PMID:17947339 PMID:18199664 PMID:18208484 PMID:18248785 PMID:18270399 PMID:18348286 PMID:18373486 PMID:18393224 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18575712 PMID:18685109 PMID:18923929 PMID:18940924 PMID:19046423 PMID:19139070 PMID:19165225 PMID:19171880 PMID:19224462 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19416725 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19523860 PMID:19556618 PMID:19714488 PMID:19717094 PMID:19877175 PMID:19913028 PMID:19930417 PMID:19933256 PMID:20013323 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20443084 PMID:20449797 PMID:20455025 PMID:20504876 PMID:20505364 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20575032 PMID:20693561 PMID:20972454 PMID:20978130 PMID:21059199 PMID:21153778 PMID:21187651 PMID:21192060 PMID:21232794 PMID:21305319 PMID:21331359 PMID:21343334 PMID:21345075 PMID:21348412 PMID:21348641 PMID:21380628 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21630152 PMID:21665242 PMID:21666498 PMID:21672450 PMID:21674059 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22311583 PMID:22356895 PMID:22455664 PMID:22507745 PMID:22551548 PMID:22571758 PMID:22619358 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22829111 PMID:22877736 PMID:22899716 PMID:22915647 PMID:22955915 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23200980 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23406775 PMID:23469205 PMID:23484829 PMID:23531339 PMID:23538418 PMID:23555315 PMID:23570263 PMID:23624782 PMID:23639312 PMID:23667202 PMID:23667851 PMID:23733769 PMID:23794094 PMID:23887774 PMID:23894400 PMID:23897043 PMID:23950206 PMID:23973262 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24122735 PMID:24171036 PMID:24218030 PMID:24256616 PMID:24278325 PMID:24326041 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24451277 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24594805 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24682512 PMID:24724063 PMID:24728327 PMID:24729566 PMID:24764719 PMID:24803582 PMID:24810334 PMID:24814347 PMID:24853176 PMID:24884479 PMID:24896186 PMID:24908601 PMID:24916180 PMID:24929325 PMID:24936644 PMID:25034526 PMID:25056374 PMID:25157968 PMID:25169539 PMID:25184754 PMID:25186627 PMID:25234657 PMID:25293557 PMID:25299233 PMID:25318351 PMID:25318593 PMID:25326637 PMID:25339039 PMID:25348012 PMID:25490274 PMID:25503501 PMID:25525159 PMID:25527155 PMID:25584008 PMID:25589003 PMID:25612911 PMID:25634010 PMID:25637381 PMID:25736369 PMID:25741868 PMID:25742471 PMID:25773284 PMID:25787918 PMID:25846456 PMID:25856671 PMID:25881545 PMID:25896519 PMID:25925845 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26086041 PMID:26181206 PMID:26205489 PMID:26206375 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26332594 PMID:26452166 PMID:26467025 PMID:26527317 PMID:26534844 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26690524 PMID:26718964 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26976419 PMID:27022024 PMID:27034505 PMID:27081505 PMID:27091190 PMID:27101110 PMID:27146902 PMID:27210295 PMID:27223487 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27443514 PMID:27463065 PMID:27484708 PMID:27501770 PMID:27545002 PMID:27601191 PMID:27662657 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27726232 PMID:27895058 PMID:27923552 PMID:27959731 PMID:27978560 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28230820 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28446506 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28477317 PMID:28492532 PMID:28528518 PMID:28573494 PMID:28649645 PMID:28681140 PMID:28724667 PMID:28756477 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28902083 PMID:28968711 PMID:28984303 PMID:29025599 PMID:29058119 PMID:29076966 PMID:29126202 PMID:29170254 PMID:29300620 PMID:29324801 PMID:29338689 PMID:29348365 PMID:29365323 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29625052 PMID:29667044 PMID:29770616 PMID:29844874 PMID:29922827 PMID:29945567 PMID:29946497 PMID:29956451 PMID:29958926 PMID:29979965 PMID:29987015 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30216591 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30450585 PMID:30588330 PMID:30596752 PMID:30607672 PMID:30613367 PMID:30675318 PMID:30709875 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30982232 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31422574 PMID:31494577 PMID:31567591 PMID:31666926 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31948886 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32019277 PMID:32039725 PMID:32156018 PMID:32187361 PMID:32292755 PMID:32295079 PMID:32318955 PMID:32427313 PMID:32566746 PMID:32592449 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32885271 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33051313 PMID:33089535 PMID:33128190 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33309985 PMID:33372952 PMID:33397043 PMID:33471991 PMID:33603772 PMID:33633026 PMID:33637564 PMID:33818021 PMID:34049842 PMID:34088725 PMID:34240179 PMID:34503094 PMID:34540492 PMID:34793697 PMID:34863587 PMID:34885220 PMID:35043155 PMID:35323354 PMID:35367578 PMID:35802772 PMID:35806449 PMID:35820297 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:38645101 More...
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
G
TPM4
tropomyosin 4
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 2:61,453,721...61,476,781
Ensembl chr 2:61,453,725...61,476,781
G
TRIM25
tripartite motif containing 25
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:33,184,039...33,212,440
Ensembl chr12:33,184,049...33,212,398
G
TSHR
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
G
TSPOAP1
TSPO associated protein 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,578,698...34,606,623
Ensembl chr12:34,578,704...34,605,888
G
TTLL6
tubulin tyrosine ligase like 6
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:24,980,421...25,033,509
Ensembl chr12:24,987,347...25,022,530
G
TYR
tyrosinase
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:18463683 PMID:25216246 PMID:27734839 PMID:28492532
NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
G
TYRO3
TYRO3 protein tyrosine kinase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:129,811,540...129,829,395
Ensembl chr 1:129,811,544...129,829,014
G
UBE2Z
ubiquitin conjugating enzyme E2 Z
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4
ClinVar
PMID:38922859
NCBI chr12:25,122,072...25,141,144
Ensembl chr12:25,122,098...25,142,753
G
UBTF
upstream binding transcription factor
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:18,989,833...19,006,145
Ensembl chr12:18,989,836...19,006,129
G
UFL1
UFM1 specific ligase 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 1:63,638,589...63,698,931
Ensembl chr 1:63,638,596...63,700,476
G
UNG
uracil DNA glycosylase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807
G
UTP18
UTP18 small subunit processome component
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,526,180...27,565,177
Ensembl chr12:27,526,175...27,565,169
G
VEZF1
vascular endothelial zinc finger 1
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:34,245,886...34,263,806
Ensembl chr12:34,245,884...34,263,538
G
VRK1
VRK serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31090908
NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923
G
VTI1A
vesicle transport through interaction with t-SNAREs 1A
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:122,848,727...123,217,568
Ensembl chr14:122,849,004...123,215,938
G
WDR11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
G
WFIKKN2
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:27,093,241...27,100,423
Ensembl chr12:27,093,679...27,100,409
G
WIF1
WNT inhibitory factor 1
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913
G
WNT9B
Wnt family member 9B
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:17,709,046...17,733,434
Ensembl chr12:17,709,046...17,733,431
G
WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
G
XRCC2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28779002 PMID:29255180 PMID:32566746
NCBI chr18:4,808,428...4,834,281
Ensembl chr18:4,808,470...4,835,802
G
XYLT2
xylosyltransferase 2
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520
G
ZAR1L
zygote arrest 1 like
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29766361 PMID:31843900
NCBI chr11:8,795,478...8,805,876
Ensembl chr11:8,795,487...8,805,881
G
ZNF652
zinc finger protein 652
ISO
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1
ClinVar
PMID:38922859
NCBI chr12:25,484,518...25,553,939
Ensembl chr12:25,492,537...25,553,715
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BMPR2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
G
IL6ST
interleukin 6 cytokine family signal transducer
resistance
ISO
DNA:polymorphism:cds:p148G>R
RGD
PMID:12917504
RGD:1625428
NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
mRNA, protein:increased expression:ovary follicle (rat)
RGD
PMID:20813360
RGD:8553031
NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP21A1
cytochrome P450 family 21 subfamily A member 1
ISO
ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
ClinVar
PMID:12050257 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 PMID:33552137 More...
NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CKAP2L
cytoskeleton associated protein 2 like
ISO
ClinVar Annotator: match by term: Hypogonadism
ClinVar
NCBI chr 3:43,736,526...43,772,995
Ensembl chr 3:43,736,744...43,772,974
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
mRNA:decreased expression:testis (rat)
RGD
PMID:17880366
RGD:4833436
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
G
CYP19A3
cytochrome P450 19A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9177373
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
G
EDN1
endothelin 1
ISO
mRNA, protein:decreased expression:testis (rat)
RGD
PMID:17880366
RGD:4833436
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
G
FSHB
follicle stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8263139 PMID:18449926 PMID:24739304
NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274
G
GNRH1
gonadotropin releasing hormone 1
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:3097822 PMID:20063086
RGD:9685135
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
G
HSD3B1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
mRNA:decreased expression:testis (rat)
RGD
PMID:17880366
RGD:4833436
NCBI chr 4:101,565,229...101,574,110
G
IL17RD
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Hypogonadism
ClinVar
PMID:25741868
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
G
IL6
interleukin 6
ISO
associated with Pancreatic Neoplasms
RGD
PMID:20221887
RGD:2317160
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
KISS1R
KISS1 receptor
ISO
Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5
RGD
PMID:12944565
RGD:1599279
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
LEP
leptin
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:9500540 PMID:15070752 PMID:21790658
RGD:10053622
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
LEPR
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229951
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1727547 PMID:8263139 PMID:15602022 PMID:18449926
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism
ClinVar
PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
G
NR0B1
nuclear receptor subfamily 0 group B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7990958
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
G
POLD1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770608
NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085
G
PRKG1
protein kinase cGMP-dependent 1
ISO
mRNA, protein:decreased expression:Leydig cell
RGD
PMID:20463352
RGD:7775065
NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010
G
PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15829128
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
G
PROP1
PROP paired-like homeobox 1
ISO
DNA:point mutation:exon:W194X
RGD
PMID:15941866
RGD:1601504
NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
G
SLC29A3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20140240
NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646
G
SNRPE
small nuclear ribonucleoprotein polypeptide E
ISO
DNA:missense mutation:cds:p.E51D (mouse)
RGD
PMID:22258617
RGD:10768832
NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
G
SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism
ClinVar
PMID:17301727 PMID:25741868 PMID:25774885
G
STAR
steroidogenic acute regulatory protein
ISO
mRNA:decreased expression:testis (rat)
RGD
PMID:17880366
RGD:4833436
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
G
TAC3
tachykinin precursor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079066
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
G
TACR3
tachykinin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19079066
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Testicular atrophy
ClinVar
PMID:25741868 PMID:26392352 PMID:28492532
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
G
SLC30A7
solute carrier family 30 member 7
ISO
ClinVar Annotator: match by term: Testicular atrophy
ClinVar
PMID:25741868 PMID:36821639
NCBI chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495
G
TP53
tumor protein p53
ISO
RGD
PMID:28834365
RGD:14995504
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28915117 PMID:36268624 PMID:36917044 More...
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
G
CCDC141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,905...84,734,182
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia
ClinVar
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
NHLH2
nescient helix-loop-helix 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868 PMID:35066646
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
G
NLGN3
neuroligin 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
MouseDO
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
PLXNA3
plexin A3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
G
POLR2F
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
G
POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:35253369 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
G
POU6F2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia
ClinVar
PMID:25741868
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
G
PROK2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia
ClinVar
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
G
SEMA3F
semaphorin 3F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
G
SOX10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
G
SOX11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
G
TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia
OMIM ClinVar
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:18259106 PMID:21681106 PMID:21717404 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23721716 PMID:23849776 PMID:24031091 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28122887 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:28780519 PMID:28915117 PMID:29211946 PMID:29758562 PMID:30098700 PMID:31200363 PMID:31602316 PMID:32870266 PMID:36268624 PMID:36917044 More...
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TAC3
tachykinin precursor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia
OMIM ClinVar
PMID:19079066 PMID:20332248
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia | ClinVar Annotator: match by term: TACR3-related condition
OMIM ClinVar
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 PMID:21300340 PMID:22031817 PMID:22035731 PMID:23329188 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32763379 PMID:33363893 More...
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GNRH1
gonadotropin releasing hormone 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
OMIM ClinVar
PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 PMID:28492532 PMID:32813678 More...
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
G
TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Isolated GnRH Deficiency
ClinVar
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
WDR11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia | ClinVar Annotator: match by term: WDR11-related condition
OMIM ClinVar
PMID:20887964 PMID:25741868 PMID:27899157 PMID:28492532 PMID:29263200 PMID:34413497 More...
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HS6ST1
heparan sulfate 6-O-sulfotransferase 1
ISO
ClinVar Annotator: match by term: HS6ST1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia
OMIM ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SEMA3A
semaphorin 3A
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition
OMIM ClinVar
PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 PMID:25636053 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30098700 PMID:32060892 PMID:32870266 PMID:36531499 More...
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SPRY4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia | ClinVar Annotator: match by term: SPRY4-related condition
OMIM ClinVar
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
IL17RD
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition
OMIM ClinVar
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DUSP6
dual specificity phosphatase 6
ISO
ClinVar Annotator: match by term: DUSP6-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia
OMIM ClinVar
PMID:23643382 PMID:25741868 PMID:28492532
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ADAM9
ADAM metallopeptidase domain 9
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710
G
ADGRA2
adhesion G protein-coupled receptor A2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668
G
ADRB3
adrenoceptor beta 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562
G
ASH2L
ASH2 like, histone lysine methyltransferase complex subunit
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547
G
BAG4
BAG cochaperone 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527
G
BRF2
BRF2 RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029
G
DDHD2
DDHD domain containing 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181
G
EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399
G
ERLIN2
ER lipid raft associated 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2
OMIM ClinVar
PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 PMID:9536098 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15001591 PMID:15365636 PMID:15605412 PMID:15625620 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16470795 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19489874 PMID:19707180 PMID:19820032 PMID:20079901 PMID:20536592 PMID:20696889 PMID:21209029 PMID:21247312 PMID:21700882 PMID:22035731 PMID:22249004 PMID:22319038 PMID:22378383 PMID:23154428 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25077900 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25501157 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27170295 PMID:27246988 PMID:27363716 PMID:27502037 PMID:27596331 PMID:27884173 PMID:27884859 PMID:28008864 PMID:28492532 PMID:28754744 PMID:28833369 PMID:28915117 PMID:29168297 PMID:29419413 PMID:30098700 PMID:30143558 PMID:30921766 PMID:31200363 PMID:31475041 PMID:31605817 PMID:31748124 PMID:31837199 PMID:31996231 PMID:32666525 PMID:32724172 PMID:32853167 PMID:33337535 PMID:33442024 PMID:33448156 PMID:33532864 PMID:33548149 PMID:33983622 PMID:34342100 PMID:34348883 PMID:35738466 PMID:37805574 More...
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
GOT1L1
glutamic-oxaloacetic transaminase 1 like 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010
G
HTRA4
HtrA serine peptidase 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:47,610,580...47,625,889
G
LETM2
leucine zipper and EF-hand containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991
G
LSM1
LSM1 homolog, mRNA degradation associated
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106
G
NSD3
nuclear receptor binding SET domain protein 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815
G
PLEKHA2
pleckstrin homology domain containing A2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603
G
PLPBP
pyridoxal phosphate binding protein
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589
G
PLPP5
phospholipid phosphatase 5
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar
PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24276467 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31589614 PMID:33227799 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
G
RAB11FIP1
RAB11 family interacting protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,527,379...48,561,408
G
STAR
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
G
TACC1
transforming acidic coiled-coil containing protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:47,749,079...47,861,200
G
TM2D2
TM2 domain containing 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGF17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia
OMIM ClinVar
PMID:6881209 PMID:21700882 PMID:23643382
NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FLRT3
fibronectin leucine rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia
OMIM ClinVar
PMID:23643382 PMID:25741868 PMID:28492532
NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
G
MACROD2
mono-ADP ribosylhydrolase 2
ISO
ClinVar Annotator: match by term: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia
ClinVar
PMID:23643382 PMID:25741868 PMID:28492532
NCBI chr17:22,635,105...24,686,846
Ensembl chr17:22,635,284...24,683,549
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FEZF1
FEZ family zinc finger 1
ISO
ClinVar Annotator: match by term: FEZF1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia
OMIM ClinVar
PMID:25192046 PMID:25741868 PMID:28492532
NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LHB
luteinizing hormone subunit beta
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia | ClinVar Annotator: match by term: LHB-related condition
OMIM ClinVar
PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 PMID:11384661 PMID:12189497 PMID:12620433 PMID:15602022 PMID:17761593 PMID:19126631 PMID:19890128 PMID:22723313 PMID:25741868 PMID:28492532 More...
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FSHB
follicle stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
OMIM ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482 PMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 More...
NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NDNF
neuron derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia
OMIM ClinVar
PMID:25741868 PMID:31883645
NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,230
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TCF12
transcription factor 12
ISO
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia
OMIM ClinVar
PMID:23354436 PMID:25741868 PMID:28492532 PMID:32620954
NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MAN2C1
mannosidase alpha class 2C member 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia
ClinVar
NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203
G
NHLH2
nescient helix-loop-helix 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia
OMIM ClinVar
PMID:25741868 PMID:35066646
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 | ClinVar Annotator: match by term: PROKR2-related condition
OMIM ClinVar
PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20502053 PMID:20696889 PMID:20981092 PMID:21209029 PMID:21247312 PMID:21858136 PMID:22035731 PMID:22319038 PMID:22399515 PMID:22466334 PMID:22745195 PMID:22773735 PMID:22927827 PMID:22995991 PMID:23082007 PMID:23200691 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24204987 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25531638 PMID:25636053 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:28858133 PMID:29161432 PMID:30216942 PMID:30311386 PMID:30430143 PMID:30476936 PMID:30487145 PMID:30576231 PMID:30669598 PMID:30773290 PMID:31093944 PMID:31219235 PMID:31589614 PMID:31781422 PMID:32400067 PMID:32763379 PMID:32870266 PMID:33227799 PMID:33411215 PMID:33468338 PMID:33587123 PMID:33729509 PMID:34348883 PMID:34539727 PMID:35090434 PMID:35173048 PMID:35669683 PMID:35922219 PMID:36110220 PMID:36694982 PMID:36843573 PMID:37642312 PMID:38593951 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PROK2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 4 | ClinVar Annotator: match by term: PROK2-related condition
OMIM ClinVar
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:20022991 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 PMID:29022642 PMID:29419413 PMID:31200363 PMID:37108593 More...
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia
OMIM ClinVar
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 PMID:17576681 PMID:18073582 PMID:18074359 PMID:18414213 PMID:18445044 PMID:18834967 PMID:20884005 PMID:21158681 PMID:21554267 PMID:21931733 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24979395 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25472840 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26538304 PMID:26544072 PMID:26590800 PMID:26666243 PMID:26929907 PMID:27884173 PMID:27899157 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29304373 PMID:29419413 PMID:30311386 PMID:30733481 PMID:31042289 PMID:31965297 PMID:32804436 PMID:32870266 PMID:33142350 PMID:34837038 PMID:36135330 More...
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
G
SEMA3E
semaphorin 3E
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia
ClinVar
PMID:15235037 PMID:25741868 PMID:28492532 PMID:32441320
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGF8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: FGF8-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia
OMIM ClinVar
PMID:17360555 PMID:18596921 PMID:20463092 PMID:21045958 PMID:21832120 PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:28492532 PMID:29584859 More...
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 PMID:29758562 More...
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
G
AXL
AXL receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25741868 PMID:28492532 PMID:32870266
NCBI chr 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914
G
BBIP1
BBSome interacting protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
NCBI chr14:121,327,357...121,348,671
Ensembl chr14:121,334,760...121,348,543
G
BCOR
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:24728327 PMID:26694549 PMID:28492532
NCBI chr X:35,768,013...35,891,013
Ensembl chr X:35,768,017...35,814,833
G
CCDC141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25741868 PMID:28492532 PMID:34930920 PMID:35316923 PMID:35432193
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,905...84,734,182
G
DUSP6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
G
FEZF1
FEZ family zinc finger 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917
G
FGF17
fibroblast growth factor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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GNRH1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19535795
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
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HS6ST1
heparan sulfate 6-O-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
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KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism
ClinVar
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
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NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
ISO
DNA:deletion:intron:c.1159-14_-22del (human)
RGD
PMID:17235395
RGD:11567265
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
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POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism
ClinVar
PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35253369 PMID:35316923 PMID:36268624 PMID:37273706 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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POU6F2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
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PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism
ClinVar
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25636053 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:29161432 PMID:31781422 PMID:33587123 PMID:34348883 PMID:36694982 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
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RNF216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25558065
NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378
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SEMA3E
semaphorin 3E
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
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SOX11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
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SPRY4
sprouty RTK signaling antagonist 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
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SRA1
steroid receptor RNA activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738
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TAC3
tachykinin precursor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
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TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
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WDR11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
OMIM ClinVar
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18772143 PMID:20371656 PMID:23349759 PMID:23643382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31073722 More...
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition
OMIM ClinVar
PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28106320 PMID:28492532 More...
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGFR1
fibroblast growth factor receptor 1
ISO
DNA:missense mutations, nonsense mutations:exon:multiple DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) DNA:frameshift mutation, missense mutations: :multiple
RGD
PMID:15845591 PMID:16764984 PMID:16882753
RGD:11567239 RGD:11567240 RGD:11567241
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: 4h syndrome
ClinVar
PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 PMID:23552953 PMID:24595525 PMID:25085752 PMID:25186627 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26787654 PMID:26845104 PMID:27443514 PMID:27621404 PMID:27751358 PMID:27779110 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28495237 PMID:28944238 PMID:29368341 PMID:29520813 PMID:29922827 PMID:29945567 PMID:30128536 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30426508 PMID:30613976 PMID:30680046 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31341520 PMID:31398194 PMID:31447099 PMID:31784482 PMID:31948886 PMID:32227564 PMID:32658311 PMID:32805687 PMID:32830346 PMID:32881420 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33193653 PMID:33471991 PMID:34072659 PMID:34271781 PMID:34637943 PMID:35128723 PMID:35245693 PMID:35643632 PMID:36136322 PMID:36315097 PMID:37449874 PMID:37628581 More...
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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ELMOD3
ELMO domain containing 3
ISO
ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
ClinVar
PMID:24039609 PMID:25326637
NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
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GUCY2D
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: POLR3-related leukodystrophy
ClinVar
PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26626312 PMID:28224992 PMID:28492532 More...
NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467
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POLR3A
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: POLR3A-related condition
OMIM ClinVar
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:27852030 PMID:28334938 PMID:28407788 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29451896 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30838315 PMID:30847471 PMID:30898877 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31855841 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32342562 PMID:32373668 PMID:32483275 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32600288 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:33972714 PMID:34284285 PMID:34395528 PMID:34583988 PMID:34589056 PMID:36140376 PMID:36344503 PMID:36385762 PMID:36825045 PMID:37077564 PMID:37237429 More...
NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
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POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar
PMID:16199547 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32371413 PMID:32870266 PMID:33417887 PMID:33726816 PMID:34440436 PMID:35253369 PMID:35316923 PMID:36268624 PMID:37273706 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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RPS24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy
ClinVar
PMID:22855961 PMID:25741868 PMID:27029625
NCBI chr14:80,473,867...80,480,818
Ensembl chr14:80,473,928...80,480,815
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TGFBR2
transforming growth factor beta receptor 2
ISO
ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AOPEP
aminopeptidase O (putative)
ISO
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
ClinVar
PMID:25741868
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
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FANCB
FA complementation group B
ISO
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057
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FANCC
FA complementation group C
ISO
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
ClinVar
PMID:25741868
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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IGSF1
immunoglobulin superfamily member 1
ISO
ClinVar Annotator: match by term: IGSF1-related condition | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM ClinVar
PMID:23143598 PMID:23966245 PMID:25741868 PMID:26840047 PMID:27310681 PMID:28492532 PMID:30086211 More...
NCBI chr X:107,674,966...108,050,736
Ensembl chr X:107,674,972...107,691,141
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
ClinVar OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR0B1
nuclear receptor subfamily 0 group B member 1
ISO
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated
ClinVar
PMID:17164309 PMID:25741868 PMID:28492532
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
ClinVar
PMID:23533228 PMID:25741868 PMID:28492532
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
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CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
G
FGF8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
G
POLR2F
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868 PMID:33111345
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
G
PROK2
prokineticin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
G
PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Anosmic hypogonadism
ClinVar
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24031091 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31093944 PMID:32870266 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
G
SOX10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868 PMID:33111345
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
G
SRA1
steroid receptor RNA activator 1
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738
G
TCF12
transcription factor 12
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868 PMID:32629054
NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262
G
WDR11
WD repeat domain 11
ISO
MouseDO
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Kallmann syndrome 5
ClinVar
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16615981 PMID:17576681 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21931733 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24979395 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26590800 PMID:26666243 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29419413 PMID:30311386 PMID:30733481 PMID:32804436 PMID:32870266 PMID:33142350 PMID:34837038 More...
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
G
SEMA3E
semaphorin 3E
ISO
ClinVar Annotator: match by term: Kallmann syndrome 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28915117 PMID:36268624 PMID:36917044 More...
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
G
CCDC141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,905...84,734,182
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
KISS1R
KISS1 receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
NHLH2
nescient helix-loop-helix 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868 PMID:35066646
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
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NLGN3
neuroligin 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461
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PLXNA3
plexin A3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
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POLR2F
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
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POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:35253369 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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POU6F2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
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PROK2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
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PROKR2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
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SEMA3F
semaphorin 3F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
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SOX10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
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SOX11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
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TACR3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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CD44
CD44 molecule
ISO
protein:increased expression:ovary
RGD
PMID:16124061
RGD:2289359
NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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C3
complement C3
severity
ISO
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CD163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:127345133 RGD:39939078
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CFB
complement factor B
severity
ISO
RGD
PMID:6342123
RGD:7411735
NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,034,332...24,041,179
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IL27
interleukin 27
ameliorates
ISO
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BATF3
basic leucine zipper ATF-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 9:130,699,092...130,711,719
Ensembl chr 9:130,699,196...130,712,358
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CCDC122
coiled-coil domain containing 122
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr11:23,159,655...23,199,074
Ensembl chr11:23,159,470...23,198,885
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CCDC88B
coiled-coil domain containing 88B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 2:7,767,924...7,784,625
Ensembl chr 2:7,767,633...7,784,625
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CD8A
CD8 subunit alpha
exacerbates
ISO
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
DNA:SNP:promoter:g.-353T>A (rs4073) (human)
RGD
PMID:30303246
RGD:40400755
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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IL10
interleukin 10
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL17A
interleukin 17A
severity
ISO
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL19
interleukin 19
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
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IL23R
interleukin 23 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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LACC1
laccase domain containing 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr11:23,143,708...23,159,790
Ensembl chr11:23,141,425...23,159,547
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
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LTA
lymphotoxin alpha
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
OMIM ClinVar
PMID:15052269 PMID:17353895
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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MRC1
mannose receptor C-type 1
ISO
ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy
ClinVar
PMID:20035344
NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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PARL
presenilin associated rhomboid like
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,640
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: LPRS2
ClinVar
PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20558392 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24082139 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 PMID:29353703 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35747619 PMID:35954270 More...
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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RAB32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:19,076,301...19,097,647
Ensembl chr 1:19,075,271...19,097,870
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RIPK2
receptor interacting serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:47,026,558...47,075,133
Ensembl chr 4:47,027,098...47,074,704
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SLC11A1
solute carrier family 11 member 1
susceptibility
ISO
DNA:polymorphisms, haplotype (human) DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10608779 PMID:15755200 PMID:16597321
RGD:5684957 RGD:5684972
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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TLR1
toll like receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: TLR1-related condition
ClinVar OMIM
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 PMID:28492532 More...
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR2
toll like receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
OMIM ClinVar
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 More...
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR6
toll like receptor 6
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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TNF
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFSF15
TNF superfamily member 15
ISO
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 1:255,328,731...255,349,508
Ensembl chr 1:255,328,719...255,349,539
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANKLE2
ankyrin repeat and LEM domain containing 2
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:25741868
NCBI chr14:22,745,635...22,771,728
Ensembl chr14:22,745,641...22,771,727
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ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:25741868
NCBI chr X:111,796,485...111,917,195
Ensembl chr X:111,796,485...111,917,174
G
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26285592 PMID:28492532 PMID:31882561 PMID:32865661 PMID:33334879 PMID:34663487 More...
NCBI chr14:29,355,497...29,367,918
Ensembl chr14:29,332,233...29,367,918
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EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar
PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:16199547 PMID:18263758 PMID:18519871 PMID:19625339 PMID:20301435 PMID:21307862 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:22729508 PMID:22992991 PMID:24033266 PMID:25031760 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26740508 PMID:27159321 PMID:28041799 PMID:28492532 PMID:29632131 PMID:29700822 PMID:29706645 PMID:30266093 PMID:31438897 PMID:33432707 PMID:34745209 PMID:35897042 PMID:37267771 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
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EIF2B3
eukaryotic translation initiation factor 2B subunit gamma
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
ClinVar
PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19909266 PMID:20301435 PMID:22312164 PMID:23932106 PMID:24028880 PMID:25079571 PMID:25326635 PMID:25741868 PMID:25761052 PMID:26162493 PMID:26467025 PMID:28492532 PMID:31072091 PMID:31418856 PMID:31692161 PMID:32180488 PMID:33432707 PMID:33517449 PMID:34745209 PMID:34755279 PMID:36380532 PMID:37981684 More...
NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
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EIF2B4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy
ClinVar
PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16199547 PMID:16807905 PMID:16998732 PMID:18263758 PMID:20016818 PMID:22430157 PMID:25741868 PMID:25761052 PMID:25843247 PMID:26467025 PMID:26553438 PMID:27812215 PMID:28008009 PMID:28334938 PMID:28492532 PMID:32071834 PMID:32180488 PMID:32962729 PMID:33432707 PMID:34745209 PMID:35389136 PMID:35860328 PMID:36380532 More...
NCBI chr 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372
G
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
ClinVar
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 PMID:14572143 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15670229 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16807905 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18519871 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:19909266 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21560189 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25457085 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:25843247 PMID:25989649 PMID:26112719 PMID:26162493 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671108 PMID:26901872 PMID:27651498 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28334938 PMID:28492532 PMID:28914269 PMID:28939701 PMID:28953922 PMID:29933199 PMID:29995139 PMID:30315562 PMID:30755392 PMID:31418856 PMID:32293553 PMID:33432707 PMID:34745209 PMID:34751098 PMID:35389136 PMID:37171481 More...
NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha
ISO
ClinVar Annotator: match by term: EIF2B1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
OMIM ClinVar
PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32865661 More...
NCBI chr14:29,355,497...29,367,918
Ensembl chr14:29,332,233...29,367,918
G
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:11704758 PMID:12707859 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:20301435 PMID:21560189 PMID:22729508 PMID:25741868 PMID:28492532 PMID:31438897 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
G
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:16807905 PMID:18263758 PMID:19909266 PMID:25741868 PMID:28492532 PMID:31072091 PMID:32180488 PMID:33432707 More...
NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
G
EIF2B4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 PMID:18263758 PMID:20016818 PMID:22430157 PMID:25741868 PMID:25761052 PMID:28334938 PMID:28492532 PMID:32071834 PMID:33432707 PMID:35389136 More...
NCBI chr 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372
G
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1
ClinVar
PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 PMID:18005052 PMID:19158808 PMID:21560189 PMID:22699478 PMID:25089094 PMID:25326635 PMID:25741868 PMID:25761052 PMID:27779215 PMID:28492532 PMID:29933199 PMID:29995139 PMID:31418856 PMID:33432707 PMID:35389136 More...
NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2
OMIM ClinVar
PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:18263758 PMID:18519871 PMID:20301435 PMID:21484434 PMID:21560189 PMID:22128017 PMID:22430157 PMID:22729508 PMID:24033266 PMID:25031760 PMID:25741868 PMID:25843247 PMID:27159321 PMID:28041799 PMID:28492532 PMID:29700822 PMID:30266093 PMID:31438897 PMID:33432707 PMID:37267771 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma
ISO
ClinVar Annotator: match by term: EIF2B3-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3
OMIM ClinVar
PMID:9536098 PMID:11835386 PMID:15776425 PMID:17576681 PMID:18263758 PMID:19158808 PMID:20301435 PMID:22312164 PMID:23932106 PMID:25079571 PMID:25741868 PMID:25761052 PMID:26467025 PMID:28492532 PMID:31418856 PMID:33517449 More...
NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2B4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: EIF2B4-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure
OMIM ClinVar
PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 PMID:18263758 PMID:20016818 PMID:25089094 PMID:25600065 PMID:25741868 PMID:25843247 PMID:26467025 PMID:28492532 PMID:29331873 PMID:32071834 PMID:33432707 PMID:34745209 PMID:35389136 More...
NCBI chr 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2B1
eukaryotic translation initiation factor 2B subunit alpha
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:11835386 PMID:16199547 PMID:25741868 PMID:28492532 PMID:32865661
NCBI chr14:29,355,497...29,367,918
Ensembl chr14:29,332,233...29,367,918
G
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:11704758 PMID:12707859 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15776425 PMID:20301435 PMID:21560189 PMID:22729508 PMID:25741868 PMID:28492532 PMID:31438897 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
G
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:16807905 PMID:18263758 PMID:19909266 PMID:25741868 PMID:28492532 PMID:31072091 PMID:32180488 PMID:33432707 More...
NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
G
EIF2B4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy
ClinVar
PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 PMID:18263758 PMID:20016818 PMID:22430157 PMID:25741868 PMID:28334938 PMID:28492532 PMID:32071834 PMID:33432707 PMID:35389136 More...
NCBI chr 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372
G
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5
OMIM ClinVar
PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21484434 PMID:21560189 PMID:21676421 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:23335982 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:26112719 PMID:26162493 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26901872 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28492532 PMID:28914269 PMID:28939701 PMID:29933199 PMID:29995139 PMID:31418856 PMID:32293553 PMID:33432707 PMID:34745209 PMID:35389136 More...
NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female
OMIM ClinVar
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9039330 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:9851790 PMID:11041448 PMID:11849253 PMID:12050206 PMID:12679452 PMID:15372531 PMID:15472221 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:23884663 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I
ClinVar
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8943222 PMID:9039330 PMID:9703386 PMID:9851790 PMID:11041448 PMID:12679452 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell hypoplasia, type II
ClinVar
PMID:9215288 PMID:9626653 PMID:10852464
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
G
CYP21A1
cytochrome P450 family 21 subfamily A member 1
ISO
ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
ClinVar
PMID:1406699 PMID:1406709 PMID:1496017 PMID:8989258 PMID:10323382 PMID:10364682 PMID:10720040 PMID:11232002 PMID:11600539 PMID:12050257 PMID:12222711 PMID:12788866 PMID:12887291 PMID:18381579 PMID:19208730 PMID:20301350 PMID:20926536 PMID:21228398 PMID:21274396 PMID:21444649 PMID:21635882 PMID:21843885 PMID:22017335 PMID:22270556 PMID:23073904 PMID:23359706 PMID:24953648 PMID:25481255 PMID:25538881 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28644547 PMID:29996815 PMID:30968594 PMID:31333583 PMID:31586465 PMID:32616876 PMID:32966723 More...
NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370
G
STAR
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism | ClinVar Annotator: match by term: STAR-related condition
OMIM ClinVar
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26014698 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31141483 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 More...
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism
ClinVar
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CBL
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Malignant germ cell tumor of ovary
ClinVar
PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
G
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Malignant germ cell tumor of ovary
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:26467025 PMID:28492532 PMID:28591191 PMID:28702895 PMID:28837162 PMID:29287190 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31700994 PMID:31991861 PMID:32235514 PMID:33036707 PMID:33118316 PMID:33471991 PMID:34117267 More...
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BPNT1
3'(2'), 5'-bisphosphate nucleotidase 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912
G
C10H1orf115
chromosome 10 C1orf115 homolog
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714
G
EPRS1
glutamyl-prolyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414
G
IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159
G
LYPLAL1
lysophospholipase like 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412
G
MARK1
microtubule affinity regulating kinase 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867
G
MIR194B
microRNA mir-194b
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987
G
MTARC1
mitochondrial amidoxime reducing component 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175
G
MTARC2
mitochondrial amidoxime reducing component 2
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924
G
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:29300443
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
G
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
G
SLC30A10
solute carrier family 30 member 10
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:9,527,523...9,545,493
G
TGFB2
transforming growth factor beta 2
ISO
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar
PMID:23420520 PMID:28492532
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANOS1
anosmin 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
G
ARHGAP35
Rho GTPase activating protein 35
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:25741868
NCBI chr 6:52,711,463...52,841,295
Ensembl chr 6:52,711,901...52,841,288
G
ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:25741868
NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:25741868
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
IGSF10
immunoglobulin superfamily member 10
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:25741868
NCBI chr13:91,625,421...91,679,494
Ensembl chr13:91,625,431...91,679,079
G
KLB
klotho beta
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:25741868
NCBI chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349
G
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
OMIM ClinVar
PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
G
SEMA3A
semaphorin 3A
ISO
ClinVar Annotator: match by term: Martsolf syndrome 1
ClinVar
PMID:22927827 PMID:25741868
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Martsolf syndrome 2
OMIM ClinVar
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 PMID:33306828 More...
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Aplasia of the uterus
ClinVar
PMID:25741868
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
GREB1L
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29100090 PMID:32378186 PMID:32585897
NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
G
WNT4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868
NCBI chr 6:80,110,238...80,138,165
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GREB1L
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1 | ClinVar Annotator: match by term: Rokitansky sequence
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GREB1L
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina
ClinVar
PMID:25741868
NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome
OMIM ClinVar
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:23295293 PMID:23325811 PMID:23497137 PMID:23515051 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:35904974 PMID:38054408 More...
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EIF2S3
eukaryotic translation initiation factor 2 subunit gamma
ISO
ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
OMIM ClinVar
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 PMID:28492532 PMID:30878599 More...
NCBI chr X:20,129,708...20,162,881
Ensembl chr X:20,146,933...20,162,702
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYB5A
cytochrome b5 type A
ISO
ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
OMIM ClinVar
PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 PMID:28492532 More...
NCBI chr 1:149,737,584...149,773,222
Ensembl chr 1:149,737,571...149,773,219
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CTU2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
OMIM ClinVar
PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 PMID:31301155 More...
NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
G
PIEZO1
piezo type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
WNT4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
OMIM ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 PMID:25741868 PMID:28492532 More...
NCBI chr 6:80,110,238...80,138,165
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SLC11A1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GGPS1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
OMIM ClinVar
PMID:25741868 PMID:32403198 PMID:35869884
NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
OMIM ClinVar
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
G
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME
ClinVar
PMID:25741868
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
G
SLC35A2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
ClinVar
PMID:25741868 PMID:34161696
NCBI chr X:42,981,801...42,992,091
Ensembl chr X:42,981,802...42,992,081
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CCL2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:testicle, fluid (rat)
RGD
PMID:14638441
RGD:1358455
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
G
CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:11897701
RGD:704384
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
G
CCR5
C-C motif chemokine receptor 5
severity
ISO
RGD
PMID:22351899
RGD:6767571
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
G
CD86
CD86 molecule
ISO
protein:increased expression:testis, macrophage (rat)
RGD
PMID:18381617
RGD:4892229
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
G
IL6R
interleukin 6 receptor
ISO
protein:increased expression:male germ cell
RGD
PMID:16458979
RGD:1625434
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:testes, endothelial cells (rat)
RGD
PMID:22351899
RGD:6767571
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
disease_progression
ISO
RGD
PMID:19603017
RGD:2315556
NCBI chr 9:93,049,955...93,146,469
G
AKT1
AKT serine/threonine kinase 1
susceptibility
ISO
DNA:point mutation:cds:p.E17K (human)
OMIM RGD
PMID:17611497
RGD:1643334
G
ALK
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:18923524 PMID:23104988 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 More...
NCBI chr 3:109,411,146...110,105,755
G
ANG
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:9166545
RGD:2317660
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
G
ANGPT1
angiopoietin 1
ISO
mRNA:decreased expression:ovary
RGD
PMID:12138242
RGD:2293864
NCBI chr 4:29,925,203...30,233,434
Ensembl chr 4:29,933,135...30,233,960
G
ANXA7
annexin A7
ISO
protein:decreased expression:ovary
RGD
PMID:17708571
RGD:2292654
NCBI chr14:76,205,238...76,234,646
Ensembl chr14:76,205,232...76,234,631
G
AOPEP
aminopeptidase O (putative)
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:23028338 PMID:25741868 PMID:28492532 PMID:32885271
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
G
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:18199528 PMID:19307944 PMID:21859464 PMID:25203624 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26000489 PMID:26332594 PMID:26467025 PMID:26530882 PMID:27121310 PMID:28195569 PMID:28492532 PMID:28706299 PMID:28744403 PMID:28944238 PMID:29069792 PMID:29684080 PMID:29752822 PMID:30256826 PMID:31062380 PMID:33193653 PMID:34250417 PMID:36243179 More...
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
G
APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
RGD
PMID:17974506 PMID:19787261
RGD:2315656 RGD:2315663
NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
G
APOB
apolipoprotein B
severity
ISO
RGD
PMID:9023386
RGD:11354936
NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
G
AR
androgen receptor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:22403669 PMID:25299611 PMID:25500996 PMID:25741868 PMID:28492532 PMID:31871297 PMID:35729303 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8659541 PMID:9443866 PMID:9463314 PMID:9872980 PMID:10330348 PMID:10817650 PMID:10873394 PMID:11756185 PMID:11996792 PMID:12091354 PMID:12473594 PMID:12552559 PMID:12673797 PMID:12917204 PMID:12935922 PMID:14706517 PMID:15756685 PMID:17333338 PMID:18634022 PMID:19404735 PMID:19781682 PMID:20301790 PMID:20305132 PMID:21665257 PMID:21933854 PMID:21993670 PMID:22529920 PMID:22585167 PMID:23555315 PMID:23807571 PMID:24728327 PMID:25085752 PMID:25318351 PMID:25326635 PMID:25503501 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26094658 PMID:26155992 PMID:26270727 PMID:26467025 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26681312 PMID:26689913 PMID:26787654 PMID:26976419 PMID:27093186 PMID:27595995 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27978560 PMID:28007021 PMID:28008555 PMID:28135048 PMID:28135145 PMID:28281318 PMID:28492532 PMID:28580595 PMID:28652578 PMID:28726808 PMID:28779002 PMID:29317520 PMID:29522266 PMID:29641532 PMID:29684080 PMID:30093976 PMID:30256826 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30374176 PMID:30549301 PMID:31050087 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31248605 PMID:31285527 PMID:31422574 PMID:31666926 PMID:31742824 PMID:31780696 PMID:31867841 PMID:31871109 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32107087 PMID:32566746 PMID:32658311 PMID:32866190 PMID:32885271 PMID:32936981 PMID:33206719 PMID:33240400 PMID:33309985 PMID:33395407 PMID:33436325 PMID:33471991 PMID:33552952 PMID:35171259 PMID:35245693 PMID:35264596 PMID:36243179 PMID:38509102 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
G
AURKA
aurora kinase A
susceptibility
ISO
DNA:SNP:cds:p.F31I
RGD
PMID:15466974
RGD:2293884
NCBI chr17:56,954,838...56,972,435
G
AXIN2
axin 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29641532 PMID:30262796
NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
G
BARD1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:15855157 PMID:19139070 PMID:23056176 PMID:25085752 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26010302 PMID:26350354 PMID:26467025 PMID:26757417 PMID:26787654 PMID:27498913 PMID:28051113 PMID:28492532 PMID:28912018 PMID:29905759 PMID:30093976 PMID:30584090 PMID:30925164 PMID:30982232 PMID:31036035 PMID:31666926 PMID:31871109 PMID:32008151 PMID:32068069 PMID:32566746 PMID:32832836 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33646313 PMID:34326862 PMID:34646395 PMID:34754157 PMID:35079693 PMID:35402282 More...
NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851
G
BLM
BLM RecQ like helicase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:23129629 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29338689 PMID:29641532 PMID:30840646 PMID:31360874 PMID:31562900 PMID:32566746 More...
NCBI chr 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,645
G
BMPR1A
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790
G
BRCA1
BRCA1 DNA repair associated
susceptibility
ISO
DNA:insertion: :5382insC ClinVar Annotator: match by term: Ovarian cancer ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
RGD ClinVar
PMID:7611277 PMID:7837387 PMID:7894493 PMID:8644702 PMID:8723683 PMID:8807330 PMID:9150149 PMID:9150154 PMID:9333265 PMID:9510469 PMID:9536098 PMID:9663595 PMID:9760198 PMID:10227398 PMID:10340909 PMID:10389907 PMID:10508480 PMID:10644434 PMID:10699917 PMID:11044354 PMID:11102986 PMID:11149425 PMID:11157798 PMID:11251181 PMID:11504767 PMID:11802209 PMID:12181777 PMID:12183412 PMID:12393792 PMID:12402341 PMID:12496476 PMID:12566964 PMID:12655560 PMID:12732733 PMID:12955716 PMID:12955719 PMID:14647443 PMID:14973102 PMID:15024741 PMID:15145354 PMID:15235020 PMID:15353005 PMID:15383404 PMID:15385441 PMID:15865297 PMID:15876480 PMID:16168118 PMID:16261400 PMID:16267036 PMID:16403807 PMID:16489001 PMID:16518693 PMID:16683254 PMID:16905680 PMID:16949048 PMID:17063270 PMID:17100994 PMID:17279547 PMID:17305420 PMID:17308087 PMID:17453335 PMID:17574969 PMID:17576681 PMID:17688236 PMID:17924331 PMID:18097605 PMID:18256760 PMID:18284688 PMID:18340530 PMID:18493658 PMID:18567944 PMID:18763032 PMID:18783588 PMID:18951461 PMID:19016756 PMID:19200354 PMID:19208665 PMID:19370767 PMID:19491284 PMID:19563646 PMID:19941162 PMID:20103620 PMID:20104584 PMID:20215541 PMID:20373018 PMID:20516115 PMID:21232165 PMID:21318380 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21553119 PMID:21559243 PMID:21702907 PMID:21725363 PMID:21751003 PMID:21965345 PMID:21989927 PMID:21990134 PMID:22006311 PMID:22034289 PMID:22217648 PMID:22476429 PMID:22505045 PMID:22516946 PMID:22711857 PMID:22752604 PMID:22753008 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22856468 PMID:22889855 PMID:22970155 PMID:23034506 PMID:23161852 PMID:23199084 PMID:23289006 PMID:23479189 PMID:23536787 PMID:23555315 PMID:23569316 PMID:23683081 PMID:23867111 PMID:23961350 PMID:24010542 PMID:24033266 PMID:24055113 PMID:24218521 PMID:24249303 PMID:24312913 PMID:24489791 PMID:24504028 PMID:24667779 PMID:24728189 PMID:24728327 PMID:24845084 PMID:24916970 PMID:25066507 PMID:25186627 PMID:25330149 PMID:25452441 PMID:25472942 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25646469 PMID:25682074 PMID:25741868 PMID:25802882 PMID:25823446 PMID:25884701 PMID:25939603 PMID:25948282 PMID:26028024 PMID:26083025 PMID:26206375 PMID:26219728 PMID:26295337 PMID:26332594 PMID:26350514 PMID:26467025 PMID:26541979 PMID:26689913 PMID:26709275 PMID:26764160 PMID:26852130 PMID:26884819 PMID:26976419 PMID:27153395 PMID:27157322 PMID:27257965 PMID:27272900 PMID:27425403 PMID:27478808 PMID:27498913 PMID:27509926 PMID:27553368 PMID:27658390 PMID:27741520 PMID:27802165 PMID:27831900 PMID:27886673 PMID:27907908 PMID:28111427 PMID:28176296 PMID:28265380 PMID:28294317 PMID:28324225 PMID:28364669 PMID:28440963 PMID:28477318 PMID:28480178 PMID:28492532 PMID:28664449 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28781887 PMID:28831036 PMID:28970858 PMID:28993434 PMID:29020732 PMID:29053726 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29215753 PMID:29297111 PMID:29310832 PMID:29335924 PMID:29339979 PMID:29348823 PMID:29446198 PMID:29470806 PMID:29667044 PMID:29681614 PMID:29712865 PMID:29731985 PMID:29752822 PMID:30093976 PMID:30103829 PMID:30203341 PMID:30209399 PMID:30287823 PMID:30415210 PMID:30548481 PMID:30555256 PMID:30606148 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30725392 PMID:30765603 PMID:30825404 PMID:30875412 PMID:31125277 PMID:31131967 PMID:31159747 PMID:31161121 PMID:31214711 PMID:31336956 PMID:31372034 PMID:31447099 PMID:31454914 PMID:31472684 PMID:31528241 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31907386 PMID:31911673 PMID:32211327 PMID:32295079 PMID:32338768 PMID:32426482 PMID:32467295 PMID:32710294 PMID:32832836 PMID:32879886 PMID:32980694 PMID:33008098 PMID:33087888 PMID:33087929 PMID:33098347 PMID:33151324 PMID:33309985 PMID:33442023 PMID:33468216 PMID:33471991 PMID:33875706 PMID:34301763 PMID:34793697 PMID:34981296 PMID:35220195 PMID:35918668 PMID:36329109 PMID:36367610 PMID:36988593 PMID:38386807 PMID:38645101 PMID:38785549 PMID:38922859 PMID:39142283 More...
RGD:2293152
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
G
BRCA2
BRCA2 DNA repair associated
no_association disease_progression
ISO
DNA:SNP:cds:p.N372H (rs144848)(human) ClinVar Annotator: match by term: Ovarian cancer DNA:deletion: :6174delT
RGD ClinVar
PMID:3347199 PMID:8840963 PMID:9150172 PMID:9579822 PMID:9971877 PMID:11179017 PMID:11597388 PMID:12215251 PMID:12474142 PMID:12684407 PMID:14973102 PMID:15070707 PMID:15145354 PMID:15168169 PMID:15317758 PMID:15340362 PMID:15365993 PMID:16168118 PMID:16261408 PMID:17657584 PMID:17899372 PMID:17972171 PMID:17972177 PMID:18042939 PMID:18165636 PMID:18431743 PMID:18607349 PMID:18627636 PMID:18779604 PMID:18824701 PMID:18844490 PMID:19016756 PMID:19043619 PMID:19499246 PMID:19656164 PMID:20104584 PMID:20215541 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21218378 PMID:21520273 PMID:21671020 PMID:21702907 PMID:21952622 PMID:22126563 PMID:22366370 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22703879 PMID:22921312 PMID:23108138 PMID:23231788 PMID:23469205 PMID:23729402 PMID:23983145 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24156927 PMID:24323938 PMID:24470074 PMID:24489791 PMID:24728327 PMID:24817641 PMID:24884479 PMID:25151137 PMID:25348012 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25927356 PMID:25980754 PMID:26067864 PMID:26187060 PMID:26219728 PMID:26221963 PMID:26295337 PMID:26332594 PMID:26402875 PMID:26467025 PMID:26530882 PMID:26687385 PMID:26689913 PMID:26692440 PMID:26757417 PMID:26761715 PMID:26848529 PMID:26852015 PMID:27124784 PMID:27157322 PMID:27257965 PMID:27658390 PMID:27701467 PMID:27741520 PMID:27907908 PMID:28111427 PMID:28222693 PMID:28277317 PMID:28283652 PMID:28294317 PMID:28351343 PMID:28419251 PMID:28423363 PMID:28492532 PMID:28664449 PMID:28724667 PMID:28831036 PMID:28961279 PMID:28993434 PMID:29161300 PMID:29192238 PMID:29215753 PMID:29240602 PMID:29339979 PMID:29360161 PMID:29394989 PMID:29446198 PMID:29478780 PMID:29681614 PMID:29752822 PMID:29907814 PMID:29909963 PMID:29988080 PMID:30039884 PMID:30078507 PMID:30286154 PMID:30287823 PMID:30415210 PMID:30613976 PMID:30702160 PMID:30720243 PMID:30787465 PMID:30982232 PMID:31131967 PMID:31143303 PMID:31174498 PMID:31248605 PMID:31447099 PMID:31721094 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31853058 PMID:31911673 PMID:31957001 PMID:32029870 PMID:32068069 PMID:32101877 PMID:32190957 PMID:32211327 PMID:32318955 PMID:32444794 PMID:32455662 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32623769 PMID:32658311 PMID:32879886 PMID:32885271 PMID:32984025 PMID:33078592 PMID:33087929 PMID:33309985 PMID:33314489 PMID:33428613 PMID:33461583 PMID:33471991 PMID:33563768 PMID:34326862 PMID:34399810 PMID:35115620 PMID:35171259 PMID:35264596 PMID:35534218 PMID:35864222 PMID:35918668 PMID:36000185 PMID:36329109 PMID:37713444 PMID:37725113 More...
RGD:2289046 RGD:9068468
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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BRIP1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian Cancers | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:16199547 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20159562 PMID:20639400 PMID:21127055 PMID:21279724 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:24728327 PMID:25330149 PMID:25741868 PMID:25783483 PMID:25980754 PMID:26296696 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26911350 PMID:26921362 PMID:26968956 PMID:27179029 PMID:27498913 PMID:28492532 PMID:28495237 PMID:28888541 PMID:29368626 PMID:29470806 PMID:29922827 PMID:29929473 PMID:29958926 PMID:29961768 PMID:30093976 PMID:30322717 PMID:30680046 PMID:30982232 PMID:31173646 PMID:31214711 PMID:31341520 PMID:31512090 PMID:31589614 PMID:31666926 PMID:32068069 PMID:32091409 PMID:32295079 PMID:32359370 PMID:32566746 PMID:32885271 PMID:33313162 PMID:33471991 PMID:33619228 PMID:33842585 PMID:34026625 PMID:34326862 PMID:34585738 PMID:36627197 PMID:36988593 PMID:38298632 More...
NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847
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BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794
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C14H12orf43
chromosome 14 C12orf43 homolog
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:10588527 PMID:23348805 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32238361 More...
NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037
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C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Familial ovarian cancer ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8659541 PMID:9443866 PMID:9463314 PMID:9536098 PMID:9872980 PMID:10330348 PMID:10817650 PMID:10873394 PMID:11756185 PMID:12091354 PMID:12552559 PMID:12935922 PMID:14706517 PMID:15756685 PMID:17576681 PMID:18634022 PMID:19781682 PMID:20301790 PMID:20305132 PMID:21665257 PMID:21933854 PMID:21993670 PMID:22585167 PMID:23807571 PMID:24728327 PMID:25032865 PMID:25085752 PMID:25326635 PMID:25503501 PMID:25614872 PMID:25741868 PMID:26094658 PMID:26270727 PMID:26467025 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26681312 PMID:26689913 PMID:26787654 PMID:26976419 PMID:27595995 PMID:27884168 PMID:27978560 PMID:28007021 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28580595 PMID:28652578 PMID:28726808 PMID:28779002 PMID:29317520 PMID:29522266 PMID:29641532 PMID:29684080 PMID:30093976 PMID:30303537 PMID:30311369 PMID:30322717 PMID:30374176 PMID:30549301 PMID:31050087 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31248605 PMID:31285527 PMID:31422574 PMID:31742824 PMID:31780696 PMID:31871109 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32107087 PMID:32658311 PMID:32936981 PMID:33395407 PMID:33471991 PMID:33552952 PMID:35245693 PMID:35264596 PMID:38509102 More...
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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CALR
calreticulin
treatment
ISO
RGD
PMID:26314964
RGD:150520159
NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
disease_progression
ISO
RGD
PMID:26175272
RGD:18337279
NCBI chr 6:78,730,204...78,734,232
Ensembl chr 6:78,730,206...78,733,740
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CCN2
cellular communication network factor 2
ISO
mRNA:decreased expression:ovarian carcinoma (human)
RGD
PMID:19382180
RGD:2314512
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CCNG1
cyclin G1
disease_progression
ISO
human cells in mouse model DNA:amplification:ovary (human) mRNA:increased expression:ovary (human)
RGD
PMID:22056875 PMID:32271408 PMID:33760168
RGD:151356990 RGD:151356992 RGD:151361152
NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
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CD163
CD163 molecule
ameliorates
ISO
RGD
PMID:31951251
RGD:149735527
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CD274
CD274 molecule
treatment
ISO
associated with ovarian cancer
RGD
PMID:23340297 PMID:28424330
RGD:41410791 RGD:41410797
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CD59
CD59 molecule
ISO
RGD
PMID:15726105 PMID:19254481
RGD:2306066 RGD:2326189
NCBI chr 2:27,186,587...27,207,303
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CD82
CD82 molecule
disease_progression
ISO
protein:altered localization, decreased expression:ovary
RGD
PMID:12079303
RGD:2289405
NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126
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CD9
CD9 molecule
disease_progression
ISO
protein:decreased expression, altered localization:ovary
RGD
PMID:12079303
RGD:2289405
NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304
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CDC73
cell division cycle 73
severity
ISO
mRNA:increased expression:ovary (human) ClinVar Annotator: match by term: Ovarian cancer
RGD ClinVar
PMID:22703879 PMID:25741868 PMID:28492532 PMID:29221126 PMID:30262796
RGD:150539444
NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
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CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
OMIM ClinVar
PMID:11948460 PMID:15235021 PMID:16061854 PMID:17126523 PMID:17434710 PMID:17522512 PMID:18442100 PMID:19268661 PMID:20373070 PMID:20719348 PMID:21424370 PMID:22723466 PMID:23264079 PMID:23435907 PMID:24493355 PMID:25741868 PMID:25927356 PMID:26072394 PMID:26467025 PMID:27276934 PMID:27582386 PMID:28135048 PMID:28492532 PMID:28580595 PMID:28649662 PMID:28688938 PMID:28767289 PMID:28873162 PMID:29025585 PMID:30287823 PMID:30311375 PMID:31514334 PMID:31589614 PMID:31815095 PMID:32091409 PMID:33471991 PMID:36436516 PMID:36988593 More...
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CDH13
cadherin 13
ISO
DNA:hypermethylation:promoter
RGD
PMID:10493953
RGD:2298987
NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415
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CDK4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:17372254 PMID:25741868 PMID:28492532
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:9425228 PMID:17047042 PMID:19260062 PMID:20340316 PMID:21462282 PMID:22841127 PMID:24660985 PMID:25741868 PMID:26104880 PMID:28492532 PMID:30443844 PMID:30548481 PMID:35001868 PMID:35171259 More...
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:17145815 PMID:21153778 PMID:21681852 PMID:21876083 PMID:24713400 PMID:24728327 PMID:25741868 PMID:26023681 PMID:26467025 PMID:27039729 PMID:27510020 PMID:28492532 PMID:28724667 PMID:28779002 PMID:29356917 PMID:30851065 PMID:31398194 PMID:31589614 PMID:32658311 PMID:32885271 PMID:32923906 PMID:33471991 PMID:34371384 PMID:34903604 PMID:35264596 PMID:35886069 PMID:35896598 PMID:37449874 More...
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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CHI3L1
chitinase 3 like 1
severity
ISO
protein:increased secretion:plasma (human)
RGD
PMID:12883737
RGD:4892638
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CLDN4
claudin 4
ISO
RGD
PMID:19555390
RGD:2317583
NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925
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COMT
catechol-O-methyltransferase
no_association susceptibility
ISO
DNA:polymorphism:exon:p.V158M DNA:polymorphism: :p.V158M mRNA:increased expression:ovary
RGD
PMID:11142424 PMID:12036914 PMID:15010821
RGD:2289722 RGD:2289724 RGD:2289725
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CRKL
CRK like proto-oncogene, adaptor protein
ISO
RGD
PMID:16391854
RGD:7488899
NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
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CTNNB1
catenin beta 1
ISO
OMIM
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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CYLD
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264
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CYP19A3
cytochrome P450 19A3
ISO
DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001)
RGD
PMID:18497059
RGD:2301045
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
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DDB2
damage specific DNA binding protein 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120
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DDR1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA:increased expression:ovary (human)
RGD
PMID:28743276
RGD:151347541
NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585
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DICER1
dicer 1, ribonuclease III
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
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EBAG9
estrogen receptor binding site associated antigen 9
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:15164121
RGD:2289854
NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,866...28,013,945
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EEF1A2
eukaryotic translation elongation factor 1 alpha 2
ISO
DNA, mRNA:amplification, increased expression:ovary
RGD
PMID:12053177
RGD:2303420
NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190
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EFEMP2
EGF containing fibulin extracellular matrix protein 2
exacerbates
ISO
mRNA, protein:increased expression:ovary (human)
RGD
PMID:25885889
RGD:42722014
NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486
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EGF
epidermal growth factor
ISO
protein:increased expression:serum (human)
RGD
PMID:22914212
RGD:13673914
NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25382819 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34308104 More...
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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ELAC2
elaC ribonuclease Z 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:29302266
NCBI chr12:57,206,596...57,238,438
Ensembl chr12:57,206,600...57,238,444
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EPCAM
epithelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
OMIM
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
disease_progression
ISO
RGD
PMID:21216588
RGD:11252174
NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8571952 PMID:9238033 PMID:11242112 PMID:11585917 PMID:12820975 PMID:24728327 PMID:25431422 PMID:25741868 PMID:26344056 PMID:28492532 More...
NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151
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ERCC5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322
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ESR1
estrogen receptor 1
ISO
associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast
RGD
PMID:16891317
RGD:2290042
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
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EXT1
exostosin glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540
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EXT2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:28849184
NCBI chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21833453
RGD:5147781
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F7
coagulation factor VII
ISO
protein:increased expression:ovarian surface epithelium (human)
RGD
PMID:19904262
RGD:11049516
NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668
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FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:9371798 PMID:22950077 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28202063 PMID:28492532 PMID:29621589 PMID:30032139 PMID:34754157 More...
NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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FANCC
FA complementation group C
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:23028338 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32885271 PMID:33471991 More...
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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FANCD2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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FANCD2OS
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
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FANCF
FA complementation group F
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
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FANCG
FA complementation group G
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
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FAS
Fas cell surface death receptor
disease_progression
ISO
protein:increased expression:blood, peritoneal fluid, T cell
RGD
PMID:17565840
RGD:2290084
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FERMT3
FERM domain containing kindlin 3
ISO
protein:decreased expression:serum
RGD
PMID:22818854
RGD:11035257
NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,790...7,909,158
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FGF1
fibroblast growth factor 1
disease_progression
ISO
mRNA:increased expression:ovary
RGD
PMID:14613644
RGD:2290288
NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323
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FGF2
fibroblast growth factor 2
disease_progression
ISO
mRNA:increased expression:ovary
RGD
PMID:14613644
RGD:2290288
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FGF7
fibroblast growth factor 7
ISO
protein:increased expression:ovary
RGD
PMID:11000522
RGD:2289080
NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750
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FH
fumarate hydratase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 PMID:33397043
NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824
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FLCN
folliculin
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:30548481
NCBI chr12:61,029,186...61,045,400
Ensembl chr12:61,031,157...61,045,392
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GHRH
growth hormone releasing hormone
ISO
mRNA:increased expression:endometrium mRNA:increased expression:tumor:expression in 17/22 specimens
RGD
PMID:10022420 PMID:11163834 PMID:11710593
RGD:2289974 RGD:2301424 RGD:2301425
NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
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GPC3
glypican 3
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:109,536,495...109,973,605
Ensembl chr X:109,536,504...109,973,607
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HDAC3
histone deacetylase 3
ISO
protein:increased expression:ovary
RGD
PMID:17387270
RGD:2306215
NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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HFE
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation:cds:p.H63D (human)
RGD
PMID:16216474
RGD:8694371
NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
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HIF1A
hypoxia inducible factor 1 subunit alpha
disease_progression
ISO
RGD
PMID:19014607
RGD:2306225
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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HMGA2
high mobility group AT-hook 2
ISO
RGD
PMID:18452175
RGD:5147841
NCBI chr 5:30,188,521...30,329,635
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HMMR
hyaluronan mediated motility receptor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936
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HNF1A
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:10333057 PMID:10588527 PMID:10634407 PMID:11289470 PMID:12359128 PMID:12574234 PMID:12618559 PMID:12675668 PMID:15277395 PMID:15761192 PMID:15928245 PMID:16046319 PMID:16186275 PMID:16917892 PMID:16963153 PMID:17033837 PMID:17116178 PMID:17192490 PMID:17425917 PMID:17440016 PMID:17496355 PMID:17573900 PMID:17601994 PMID:17700391 PMID:17924661 PMID:17937063 PMID:18332101 PMID:18414213 PMID:18513305 PMID:23348805 PMID:24728327 PMID:25575005 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29895593 PMID:31109344 PMID:32238361 PMID:35328643 More...
NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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HNF1B
HNF1 homeobox B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:12161522 PMID:25700310 PMID:25741868
NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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HTRA2
HtrA serine peptidase 2
ISO
mRNA:decreased expression:ovary (human)
RGD
PMID:18241672
RGD:5688746
NCBI chr 3:68,516,666...68,520,025
Ensembl chr 3:68,516,500...68,519,886
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL10
interleukin 10
ISO
protein:increased expression:serum
RGD
PMID:9166545
RGD:2317660
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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ILK
integrin linked kinase
severity
ISO
protein:increased expression:ovary, surface of epithelium (human)
RGD
PMID:14517840
RGD:13441558
NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,608...3,159,858
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ITGA8
integrin subunit alpha 8
ISO
DNA:hypermethylation:promoter
RGD
PMID:17303177
RGD:2302241
NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,913...46,303,343
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JAK1
Janus kinase 1
treatment
ISO
RGD
PMID:25319391
RGD:19165135
NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182
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JUP
junction plakoglobin
ISO
DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition
RGD
PMID:7604000
RGD:2291881
NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210
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KIF1B
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:22703879 PMID:25176472 PMID:25741868 PMID:28492532 PMID:31911633 PMID:32091409 More...
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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KLC1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
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KLK10
kallikrein related peptidase 10
disease_progression
ISO
RGD
PMID:18766180
RGD:2314846
NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
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KLK4
kallikrein related peptidase 4
severity
ISO
RGD
PMID:15262123
RGD:2314856
NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
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KLK6
kallikrein related peptidase 6
ISO
RGD
PMID:17303231
RGD:2314855
NCBI chr 6:55,629,983...55,639,215
Ensembl chr 6:55,629,991...55,638,080
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LEF1
lymphoid enhancer binding factor 1
ISO
protein:altered activity:ovary
RGD
PMID:14520463
RGD:2298717
NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070
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LOC100524016
mesothelin
ISO
RGD
PMID:17581599 PMID:17785569
RGD:2326057 RGD:2326062
NCBI chr 3:41,025,892...41,029,302
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LOC100739508
glutathione S-transferase P-like
treatment
ISO
DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:19786980
RGD:5688741
NCBI chr 2:5,005,498...5,009,247
G
LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
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MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms,haplotype:exon,promoter: mRNA:increased expression:ovary:
RGD
PMID:25038892
RGD:12910855
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MEN1
menin 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:16563611 PMID:21819486 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:28873162 PMID:35264596
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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MLH1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:2357243 PMID:22216297 PMID:23047549 PMID:23573243 PMID:24033266 PMID:25085752 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30086788 PMID:30267214 PMID:30324682 PMID:31391288 PMID:32068069 PMID:32255556 PMID:32566746 PMID:32658311 PMID:32980694 PMID:33471991 PMID:34172528 PMID:35449176 More...
NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
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MMP1
matrix metallopeptidase 1
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:10485461
RGD:7207020
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP8
matrix metallopeptidase 8
disease_progression
ISO
RGD
PMID:14602136
RGD:2306084
NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:12376507 PMID:14514376 PMID:15046089 PMID:15613555 PMID:16425354 PMID:18383312 PMID:18726168 PMID:19419416 PMID:22006311 PMID:22949387 PMID:23047549 PMID:23760103 PMID:25085752 PMID:25637381 PMID:25741868 PMID:26333163 PMID:26467025 PMID:26824983 PMID:26845104 PMID:26951660 PMID:27363726 PMID:27974047 PMID:28376765 PMID:28492532 PMID:28494185 PMID:28580595 PMID:28706299 PMID:28767289 PMID:29050249 PMID:29192238 PMID:29684080 PMID:30093976 PMID:30122538 PMID:30267214 PMID:30374176 PMID:30630526 PMID:30833958 PMID:30982232 PMID:31054147 PMID:31235699 PMID:31248605 PMID:31307542 PMID:31386297 PMID:31391288 PMID:32019277 PMID:32068069 PMID:32255556 PMID:32547938 PMID:32566746 PMID:32659497 PMID:32832836 PMID:32973888 PMID:32980694 PMID:33294277 PMID:33309985 PMID:33357406 PMID:33471991 PMID:33848333 PMID:34755017 PMID:35449176 PMID:35884469 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:10508506 PMID:10537275 PMID:11470537 PMID:12019211 PMID:15782118 PMID:16408224 PMID:16636019 PMID:16885385 PMID:17312306 PMID:17531815 PMID:17594722 PMID:18566915 PMID:21120944 PMID:22102614 PMID:22495361 PMID:23047549 PMID:23403630 PMID:23621914 PMID:24033266 PMID:24040339 PMID:24100870 PMID:24448499 PMID:25085752 PMID:25559809 PMID:25637381 PMID:25741868 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26530882 PMID:26580448 PMID:26689913 PMID:27363726 PMID:27601186 PMID:28466842 PMID:28492532 PMID:28531214 PMID:28873162 PMID:29945567 PMID:30267214 PMID:30982232 PMID:31307542 PMID:31742824 PMID:31882575 PMID:32068069 PMID:32547938 PMID:32980694 PMID:33294277 PMID:33471991 PMID:33588785 PMID:34326862 PMID:34598035 PMID:35223509 PMID:35449176 PMID:35904628 PMID:36243179 More...
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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MSR1
macrophage scavenger receptor 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:15236166 PMID:16042573 PMID:16890597 PMID:18091433 PMID:18301448 PMID:19279422 PMID:20618354 PMID:20848659 PMID:21195604 PMID:23322991 PMID:25741868 PMID:25820570 PMID:28492532 PMID:34704405 More...
NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
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MXI1
MAX interactor 1, dimerization protein
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr14:120,643,691...120,722,632
Ensembl chr14:120,643,830...120,724,099
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MYO6
myosin VI
disease_progression
ISO
RGD
PMID:15146066
RGD:2314958
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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NASP
nuclear autoantigenic sperm protein
ISO
protein:increased expression:ovary (human)
RGD
PMID:20164540
RGD:9590111
NCBI chr 6:165,773,964...165,804,978
Ensembl chr 6:165,770,055...165,805,383
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24349281 PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:30982232 PMID:32885271 PMID:33471991 PMID:34326862 More...
NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532 PMID:30290804 PMID:30784236
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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NME1
NME/NM23 nucleoside diphosphate kinase 1
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:8519661 PMID:8636741
RGD:2299065 RGD:2299066
NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
protein:increased expression:endometrium
RGD
PMID:8519661
RGD:2299066
NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,027
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
DNA:insertion:Cds: 3020_3021insC (human)
RGD
PMID:20223031
RGD:5131515
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS3
nitric oxide synthase 3
disease_progression
ISO
DNA:repeat:intron
RGD
PMID:12144818
RGD:2298575
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NQO2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 7:1,792,745...1,805,916
Ensembl chr 7:1,792,876...1,806,301
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NRG1
neuregulin 1
treatment
ISO
mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human)
RGD
PMID:27998236
RGD:39456103
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
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OGG1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP:intron: (rs2304277) (human)
RGD
PMID:24698998
RGD:8657369
NCBI chr13:66,038,669...66,045,478
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OPCML
opioid binding protein/cell adhesion molecule like
ISO
OMIM
NCBI chr 9:59,037,711...60,141,162
Ensembl chr 9:59,037,714...60,140,839
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OVCA2
OVCA2 serine hydrolase domain containing
ISO
mRNA:decreased expression:ovary
RGD
PMID:8616839
RGD:2302168
NCBI chr12:48,156,599...48,161,774
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:3347191 PMID:17200668 PMID:17287723 PMID:18288683 PMID:18302019 PMID:18446436 PMID:19333784 PMID:20091115 PMID:20122277 PMID:20180015 PMID:20722467 PMID:20852946 PMID:20927582 PMID:21165770 PMID:21356067 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21932393 PMID:22052327 PMID:22241545 PMID:22310028 PMID:22692731 PMID:22995991 PMID:23448497 PMID:23824750 PMID:23935836 PMID:24033266 PMID:24206657 PMID:24448499 PMID:24556926 PMID:24728327 PMID:24949998 PMID:25085752 PMID:25186627 PMID:25356972 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25575445 PMID:25741868 PMID:25980754 PMID:26283626 PMID:26315354 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26689913 PMID:27616075 PMID:27930734 PMID:27978560 PMID:28492532 PMID:28503720 PMID:28767289 PMID:28779002 PMID:28825143 PMID:28873162 PMID:29052111 PMID:29368341 PMID:29387807 PMID:29522266 PMID:30113427 PMID:30287823 PMID:30982232 PMID:31159747 PMID:31214711 PMID:31422574 PMID:31636395 PMID:31742824 PMID:31757951 PMID:32658311 PMID:32659497 PMID:32830346 PMID:32853339 PMID:32980694 PMID:33139182 PMID:33195396 PMID:33309985 PMID:33471991 PMID:33811135 PMID:34585473 More...
NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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PDGFRA
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:22473090 PMID:24728327 PMID:25336117 PMID:25741868 PMID:27153395 PMID:28492532 PMID:30093976 PMID:30359545 More...
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
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PEBP1
phosphatidylethanolamine binding protein 1
ISO
RGD
PMID:18652693
RGD:2302866
NCBI chr14:34,523,901...34,530,238
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PECAM1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:female gonad (human)
RGD
PMID:25502723
RGD:11541094
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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PHB1
prohibitin 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706
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PHOX2B
paired like homeobox 2B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
OMIM
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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PMS1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868
NCBI chr15:94,351,603...94,476,505
Ensembl chr15:94,351,630...94,476,506
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PMS2
PMS1 homolog 2, mismatch repair system component
disease_progression
ISO
DNA:SNP: :rs2228006 (human) ClinVar Annotator: match by term: Ovarian cancer
RGD ClinVar
PMID:10479499 PMID:10480359 PMID:15077197 PMID:18723338 PMID:19526325 PMID:20186688 PMID:20186689 PMID:20205264 PMID:22086678 PMID:22290698 PMID:22703879 PMID:24027009 PMID:24072394 PMID:24689082 PMID:24728327 PMID:25142776 PMID:25479140 PMID:25503501 PMID:25741868 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26798439 PMID:26845104 PMID:26900293 PMID:27028851 PMID:27356891 PMID:27435373 PMID:27601186 PMID:27616075 PMID:27720647 PMID:27930734 PMID:28135145 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28528518 PMID:28874130 PMID:29570743 PMID:29684080 PMID:30093976 PMID:30122538 PMID:30166348 PMID:30521064 PMID:31269945 PMID:31391288 PMID:31742824 PMID:31830689 PMID:31921681 PMID:32068069 PMID:32566746 PMID:32661327 PMID:32832836 PMID:32914570 PMID:32980694 PMID:33413596 PMID:33471991 PMID:33850299 PMID:34172528 PMID:34350294 PMID:34567566 PMID:35171259 PMID:35449176 PMID:36200007 More...
RGD:2315028
NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
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POLD1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Familial ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Familial ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
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POT1
protection of telomeres 1
ISO
DNA:SNP: :rs116895242 (human)
RGD
PMID:27459707
RGD:151356949
NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890
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PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr12:37,485,601...37,536,159
Ensembl chr12:37,485,588...37,536,146
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PRKCA
protein kinase C alpha
ISO
RGD
PMID:10589745
RGD:2298671
NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Ovarian cancer
OMIM ClinVar
PMID:10072423 PMID:10824074 PMID:11179010 PMID:11222808 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15090472 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16339143 PMID:16714300 PMID:16769863 PMID:17766365 PMID:18486522 PMID:18519021 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21996382 PMID:22118943 PMID:22555654 PMID:23531835 PMID:23751051 PMID:23818421 PMID:24082139 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25833766 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26556299 PMID:26683220 PMID:26764160 PMID:26830385 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 PMID:29353703 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31324919 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35747619 PMID:35954270 More...
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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PRSS8
serine protease 8
ISO
protein:increased expression:serum
RGD
PMID:11584061
RGD:2292486
NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220
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PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:16931872 PMID:24204797 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29205322 PMID:30093976 PMID:31645765 More...
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
human gene and cells in a mouse model ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
RGD ClinVar
PMID:18347155 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30287823 PMID:30311380 PMID:32234455 PMID:32350270 PMID:32832836 PMID:32885271 PMID:32980694 PMID:33471991 PMID:34793697 PMID:38645101 More...
RGD:127285605
NCBI chr14:99,929,590...100,021,619
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:12615701
RGD:2300211
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:22216297 PMID:23555315 PMID:24894818 PMID:25151137 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26757417 PMID:26787654 PMID:27783279 PMID:28102005 PMID:28492532 PMID:28550065 PMID:28961279 PMID:29338689 PMID:29891727 PMID:29926297 PMID:30306255 PMID:30441849 PMID:30982232 PMID:31159747 PMID:31360874 PMID:31742824 PMID:32566746 PMID:32854451 PMID:33471991 PMID:33563768 PMID:34716202 PMID:35186721 PMID:38509102 More...
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
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RAD51
RAD51 recombinase
resistance
ISO
DNA:polymorphism: :135G>C ClinVar Annotator: match by term: Ovarian cancer
RGD ClinVar
PMID:17301259 PMID:25741868
RGD:2298722
NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136
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RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:20400964 PMID:21537932 PMID:21597919 PMID:21980511 PMID:22167183 PMID:23117857 PMID:25085752 PMID:25186627 PMID:25292178 PMID:25338684 PMID:25470109 PMID:25741868 PMID:25980754 PMID:26467025 PMID:27443514 PMID:28492532 PMID:28864920 PMID:29158291 PMID:29263802 PMID:29641532 PMID:30093976 PMID:30982232 PMID:31567591 PMID:32068069 PMID:32566746 PMID:32658311 PMID:33471991 PMID:34284872 PMID:34426522 PMID:35039523 PMID:36099300 PMID:36562461 PMID:37253112 More...
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
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RASSF1
Ras association domain family member 1
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:16545186
RGD:2299867
NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226
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RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:12541220 PMID:16269091 PMID:22703879 PMID:24082139 PMID:24448499 PMID:24688104 PMID:24728327 PMID:24791139 PMID:25741868 PMID:28492532 PMID:32091409 PMID:34190019 PMID:34680218 More...
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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RECQL4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:15221963 PMID:24728327 PMID:25741868 PMID:26491355 PMID:28202063 PMID:28492532 More...
NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8797874 PMID:9452077 PMID:9606292 PMID:10076558 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11238493 PMID:11732489 PMID:11788682 PMID:12019403 PMID:12193298 PMID:12410354 PMID:15184865 PMID:15386323 PMID:15741265 PMID:16343097 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17316110 PMID:17466010 PMID:17664273 PMID:17895320 PMID:18062802 PMID:18299477 PMID:19445625 PMID:19958926 PMID:20039896 PMID:20142552 PMID:20369307 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20719260 PMID:21134561 PMID:21309721 PMID:21454698 PMID:21711375 PMID:21810974 PMID:22174939 PMID:22584710 PMID:23341727 PMID:23468374 PMID:23514012 PMID:24033266 PMID:24336963 PMID:24361808 PMID:24560924 PMID:24617864 PMID:25349307 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26467025 PMID:26758973 PMID:26845104 PMID:27099842 PMID:28125075 PMID:28492532 PMID:29192238 PMID:29590403 PMID:29641532 PMID:29684080 PMID:30217742 PMID:31510104 PMID:32164334 PMID:32283892 PMID:32923848 PMID:33167350 PMID:33450337 PMID:33615670 PMID:34637071 More...
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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RNASEL
ribonuclease L
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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RUNX3
RUNX family transcription factor 3
disease_progression
ISO
RGD
PMID:26175272
RGD:18337279
NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
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SDHAF2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:26016412 PMID:28492532 PMID:30050099
NCBI chr 2:10,074,965...10,088,185
Ensembl chr 2:10,072,920...10,088,117
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:23780556 PMID:25741868 PMID:28492532
NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
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SDHC
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:23175444 PMID:24033266 PMID:24466223 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 More...
NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118
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SERPINC1
serpin family C member 1
ISO
RGD
PMID:22818854
RGD:11035257
NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
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SFN
stratifin
disease_progression
ISO
mRNA:increased expression:ovary
RGD
PMID:15102672 PMID:16773180
RGD:2299930 RGD:2299933
NCBI chr 6:84,188,521...84,189,824
Ensembl chr 6:84,188,445...84,189,827
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SHMT1
serine hydroxymethyltransferase 1
ISO
protein:increased expression:plasma
RGD
PMID:17031801
RGD:2300329
NCBI chr12:60,414,421...60,435,451
Ensembl chr12:60,416,463...60,435,450
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SLC49A4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr13:137,633,471...137,739,114
Ensembl chr13:137,641,425...137,739,098
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SLCO1B2
solute carrier organic anion transporter family member 1B2
ISO
mRNA:increased expression:overy (human)
RGD
PMID:29577869
RGD:152995440
NCBI chr 5:52,137,454...52,206,236
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SMAD2
SMAD family member 2
ISO
DNA:deletion, polymorphisms
RGD
PMID:10969799
RGD:2299974
NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357
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SMAD4
SMAD family member 4
ISO
DNA:missense mutation mRNA:decreased expression:ovary
RGD
PMID:10451707 PMID:16951150
RGD:2299976 RGD:2299979
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
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SOD2
superoxide dismutase 2
ISO
RGD
PMID:16179351
RGD:1581239
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SPDEF
SAM pointed domain containing ETS transcription factor
disease_progression
ISO
mRNA, protein:decreased expression:ovary
RGD
PMID:18567002
RGD:2298935
NCBI chr 7:30,515,925...30,538,095
Ensembl chr 7:30,515,925...30,524,470
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SPINT1
serine peptidase inhibitor, Kunitz type 1
disease_progression
ISO
protein:decreased expression:ovarian epithelium (human)
RGD
PMID:11948120
RGD:1581316
NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783
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STAT3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:25319391
RGD:19165135
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:10429654 PMID:10676634 PMID:17711506 PMID:18594528 PMID:19892943 PMID:21191700 PMID:23555315 PMID:24857785 PMID:25343854 PMID:25741868 PMID:26164066 PMID:26319365 PMID:26467025 PMID:26692440 PMID:26837502 PMID:26976419 PMID:27153395 PMID:27311873 PMID:27978560 PMID:28492532 PMID:28977883 PMID:30093976 PMID:30287823 PMID:31775759 PMID:32566746 PMID:32720237 PMID:32980694 PMID:33471991 PMID:34011629 PMID:34326862 PMID:35264596 PMID:37323311 More...
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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TBX3
T-box transcription factor 3
ISO
protein:increased expression:plasma
RGD
PMID:17031801
RGD:2300329
NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
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TFF1
trefoil factor 1
ISO
RGD
PMID:17624412
RGD:2292003
NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460
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TFRC
transferrin receptor
ISO
RGD
PMID:3493065
RGD:2298574
NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
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TIMP1
TIMP metallopeptidase inhibitor 1
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:17695443
RGD:2298520
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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TMEM127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810
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TNF
tumor necrosis factor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19825522
RGD:2315115
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFRSF1A
TNF receptor superfamily member 1A
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19825522
RGD:2315115
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:19825522
RGD:2315115
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9572492 PMID:9667734 PMID:10435620 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:11793474 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16437140 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17541742 PMID:17606709 PMID:18511570 PMID:18555592 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21761402 PMID:22186996 PMID:22811390 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24076587 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25637381 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26086041 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28369373 PMID:28472496 PMID:28492532 PMID:29070607 PMID:29300620 PMID:29365323 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33300245 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TRIM24
tripartite motif containing 24
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr18:11,055,211...11,151,755
Ensembl chr18:11,055,213...11,151,404
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TRIM33
tripartite motif containing 33
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 4:106,058,197...106,195,145
Ensembl chr 4:106,058,109...106,191,800
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:32211034
NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:10732801 PMID:15798777 PMID:16114042 PMID:17304050 PMID:18302728 PMID:21309039 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:27930734 PMID:28492532 PMID:29641532 PMID:30548481 PMID:32830346 PMID:32917966 PMID:33575217 More...
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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TSG101
tumor susceptibility 101
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:17606716
RGD:2298534
NCBI chr 2:40,673,187...40,720,681
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TSHR
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:8954020 PMID:9385128 PMID:11442002 PMID:15498884 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22405933 PMID:22876533 PMID:23154162 PMID:23926367 PMID:24033266 PMID:24895636 PMID:25248169 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:30022773 PMID:30083029 PMID:31356790 PMID:32425884 PMID:33179747 PMID:34374102 PMID:34377013 PMID:34539567 PMID:36125728 More...
NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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TSPAN31
tetraspanin 31
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977
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UBE2I
ubiquitin conjugating enzyme E2 I
ISO
mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01)
RGD
PMID:15735760
RGD:2301345
NCBI chr 3:40,556,556...40,586,382
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UTRN
utrophin
ISO
protein:increased expression:plasma
RGD
PMID:17031801
RGD:2300329
NCBI chr 1:20,514,264...21,047,927
Ensembl chr 1:20,514,260...21,048,484
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VEGFC
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:19911196
RGD:2315470
NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:24727139 PMID:24728327 PMID:25741868 PMID:27498913 PMID:28492532
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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WRAP53
WD repeat containing antisense to TP53
disease_progression susceptibility
ISO
DNA:SNPs: :
RGD
PMID:23192612 PMID:26426684
RGD:11522675 RGD:21081534
NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364
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WRN
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:15609317 PMID:24728327 PMID:25637295 PMID:25741868 PMID:28492532
NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,986...54,094,587
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WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
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XPA
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570
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XPC
XPC complex subunit, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772
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XRCC3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:25741868
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ZNF276
zinc finger protein 276
ISO
ClinVar Annotator: match by term: Ovarian cancer
ClinVar
PMID:9371798 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28202063 PMID:28492532 PMID:30032139 More...
NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr 1:272,912,239...272,935,316
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AKT2
AKT serine/threonine kinase 2
ISO
DNA:amplification (human)
RGD
PMID:16721043
RGD:2315603
NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919
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AMH
anti-Mullerian hormone
treatment
ISO
RGD
PMID:16533786
RGD:2315652
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
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ATAD5
ATPase family AAA domain containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr12:42,874,705...42,920,438
Ensembl chr12:42,874,599...42,920,399
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:10330348 PMID:10817650 PMID:16461462 PMID:17124347 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
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BMP7
bone morphogenetic protein 7
ISO
protein:increased expression:ovary
RGD
PMID:15277215
RGD:2289032
NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:7894493 PMID:8808710 PMID:9150154 PMID:10227398 PMID:10389907 PMID:10804288 PMID:11044645 PMID:11149425 PMID:11595708 PMID:11802209 PMID:12402341 PMID:12655560 PMID:15145354 PMID:15340362 PMID:15865297 PMID:16267036 PMID:16826315 PMID:18159056 PMID:19016756 PMID:20104584 PMID:20373018 PMID:21324516 PMID:21553119 PMID:21614564 PMID:22006311 PMID:22752604 PMID:22798144 PMID:23175448 PMID:23536787 PMID:23961350 PMID:24010542 PMID:24033266 PMID:24218521 PMID:24312913 PMID:24916970 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25802882 PMID:25948282 PMID:26028024 PMID:26187060 PMID:26295337 PMID:26467025 PMID:26709275 PMID:26848529 PMID:27062684 PMID:27741520 PMID:27831900 PMID:27836010 PMID:28176296 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28724667 PMID:28993434 PMID:29310832 PMID:29339979 PMID:29446198 PMID:29470806 PMID:29752822 PMID:29907814 PMID:30093976 PMID:30555256 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30875412 PMID:30968603 PMID:31159747 PMID:31336956 PMID:31372034 PMID:31447099 PMID:31528241 PMID:31825140 PMID:32318955 PMID:32438681 PMID:32710294 PMID:32832836 PMID:33087929 PMID:33151324 PMID:33442023 PMID:33471991 PMID:36988593 More...
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
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CABIN1
calcineurin binding protein 1
ISO
DNA:hypermethylation: :
RGD
PMID:18757082
RGD:10054392
NCBI chr14:49,686,196...49,787,723
Ensembl chr14:49,686,196...49,787,688
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
treatment
ISO
RGD
PMID:26910918
RGD:18337281
NCBI chr 6:78,730,204...78,734,232
Ensembl chr 6:78,730,206...78,733,740
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CASP6
caspase 6
ISO
RGD
PMID:17283169
RGD:2301336
NCBI chr 8:112,519,450...112,534,315
Ensembl chr 8:112,520,629...112,537,045
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CAV1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11032026 PMID:35622184
RGD:2289113
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CCND1
cyclin D1
treatment
ISO
RGD
PMID:18025280
RGD:2296036
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
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CCNE1
cyclin E1
ISO
protein:increased expression:ovary
RGD
PMID:12713563
RGD:2289335
NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363
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CCNG1
cyclin G1
ISO
human cells in mouse model mRNA:increased expression:ovary (human)
RGD
PMID:26872615
RGD:11555725
NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
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CCR5
C-C motif chemokine receptor 5
ISO
protein:increased expression:peritoneal fluid, leukocyte (human)
RGD
PMID:11948121
RGD:4892092
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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CLDN7
claudin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21134740
NCBI chr12:52,612,517...52,628,376
Ensembl chr12:52,612,510...52,628,362
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CRADD
CASP2 and RIPK1 domain containing adaptor with death domain
ISO
DNA:hypermethylation
RGD
PMID:15361843
RGD:2298907
NCBI chr 5:89,257,603...89,480,414
Ensembl chr 5:89,267,944...89,479,712
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DUSP1
dual specificity phosphatase 1
disease_progression
ISO
RGD
PMID:12432554
RGD:2298695
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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EDN1
endothelin 1
ISO
mRNA, protein:increased expression:ovarian tumor (human)
RGD
PMID:9973223
RGD:4144954
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EHMT2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25115793
NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,992,697
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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GLRA3
glycine receptor alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr14:15,120,091...15,603,509
Ensembl chr14:15,423,767...15,595,422
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GPX6
glutathione peroxidase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr 7:22,256,013...22,267,992
Ensembl chr 7:22,256,038...22,267,992
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HDAC3
histone deacetylase 3
disease_progression
ISO
RGD
PMID:18714364
RGD:2306205
NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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IL13
interleukin 13
ISO
mRNA,protein:increased expression:tumor,ascites:mRNA increased relative to normal ovary, protein increased in tumor tissue/cancer ascites relative to normal ovary/ascites
RGD
PMID:14984938
RGD:2290344
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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KLK13
kallikrein related peptidase 13
ISO
mRNA:increased expression:ovary
RGD
PMID:19707197
RGD:2314862
NCBI chr 6:55,703,414...55,712,976
Ensembl chr 6:55,703,392...55,713,532
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KPNB1
karyopherin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr12:23,915,783...23,945,407
Ensembl chr12:23,916,164...23,944,588
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L1CAM
L1 cell adhesion molecule
severity
ISO
human cells, mouse model protein:increased expression:ovary, serum (human)
RGD
PMID:13678974 PMID:16424028
RGD:6483445 RGD:6483449
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,269
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LETMD1
LETM1 domain containing 1
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:12879013
RGD:2314918
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
RGD
PMID:12644821
RGD:2306053
NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
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MAP2K6
mitogen-activated protein kinase kinase 6
disease_progression
ISO
expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system
RGD
PMID:16489030
RGD:2293338
NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641
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MDH2
malate dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr 3:10,120,121...10,132,705
Ensembl chr 3:10,120,083...10,132,752
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MIR145
microRNA mir-145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
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MIR17
microRNA mir-17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732
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MIR23B
microRNA mir-23b
treatment
ISO
human cells in mouse model
RGD
PMID:26872615
RGD:11555725
NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276
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MIR98
microRNA mir-98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr X:46,302,381...46,302,460
Ensembl chr X:46,302,381...46,302,460
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MMP13
matrix metallopeptidase 13
disease_progression
ISO
DNA:polymorphism:promoter
RGD
PMID:12974393 PMID:19258954
RGD:2306074 RGD:2306083
NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:18269114 PMID:20028993 PMID:24362816 PMID:25741868 PMID:26467025 PMID:26517685 PMID:28492532 More...
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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MT-CYB
mitochondrially encoded cytochrome b
ISO
DNA:polymorphisms, nonsense mutation
RGD
PMID:11507041
RGD:2298954
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
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MTMR14
myotubularin related protein 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820
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MTUS1
microtubule associated scaffold protein 1
ISO
mRNA:decreased expression:ovarian carcinoma (human)
RGD
PMID:16270321
RGD:2317019
NCBI chr17:5,331,668...5,507,212
Ensembl chr17:5,329,750...5,507,119
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:2914711 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15635083 PMID:15931596 PMID:15987719 PMID:16492921 PMID:16557584 PMID:17489848 PMID:17956577 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19620482 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20618354 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23361220 PMID:23625202 PMID:23805267 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24728327 PMID:24953332 PMID:25186627 PMID:25590978 PMID:25741868 PMID:25820570 PMID:26202870 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27153395 PMID:27783336 PMID:27829682 PMID:27870730 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28944238 PMID:29147111 PMID:29371908 PMID:29766397 PMID:29785153 PMID:29978187 PMID:30067863 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30620386 PMID:30676620 PMID:30702970 PMID:30833417 PMID:30877237 PMID:31159747 PMID:31263571 PMID:31285513 PMID:31447099 PMID:31512090 PMID:31618753 PMID:31980526 PMID:32088803 PMID:32231684 PMID:32338768 PMID:32570879 PMID:32830346 PMID:32854451 PMID:33087929 PMID:33258288 PMID:33384714 PMID:33442023 PMID:33504652 PMID:34259353 PMID:34308366 PMID:34347074 PMID:34426522 PMID:35535697 More...
NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:9590180 PMID:16415040 PMID:25741868 PMID:28492532
NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
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NCOA4
nuclear receptor coactivator 4
ISO
mRNA:increased expression:ovary
RGD
PMID:11161850
RGD:2293537
NCBI chr14:90,505,614...90,531,302
Ensembl chr14:90,505,110...90,531,118
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
RGD
PMID:7907945
RGD:2299073
NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,027
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PAK1
p21 (RAC1) activated kinase 1
severity
ISO
protein:increased expression:ovary
RGD
PMID:17533742
RGD:2299164
NCBI chr 9:11,830,095...11,973,074
Ensembl chr 9:11,830,095...12,020,415
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:17200671 PMID:20927582 PMID:21165770 PMID:21365267 PMID:25741868 PMID:26283626 PMID:26296701 PMID:28492532 More...
NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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PHF21A
PHD finger protein 21A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr 2:16,341,964...16,544,127
Ensembl chr 2:16,344,322...16,545,272
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105
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PRKCA
protein kinase C alpha
severity
ISO
RGD
PMID:12888898
RGD:2292460
NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
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PRKCI
protein kinase C iota
disease_progression
ISO
RGD
PMID:12888898
RGD:2292460
NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931
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PTK2
protein tyrosine kinase 2
ISO
protein:increased tyrosine phosphorylation:ovary protein:increased expression:ovary
RGD
PMID:10526262 PMID:15455382
RGD:2292563 RGD:2292572
NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
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RFFL
ring finger and FYVE like domain containing E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Ovarian carcinoma
ClinVar
PMID:16199547 PMID:21822267 PMID:25741868 PMID:26720727 PMID:26720728 PMID:28492532 PMID:28724667 PMID:30165555 PMID:32107557 PMID:34200360 PMID:35261632 PMID:36537080 PMID:36544182 PMID:36685941 More...
NCBI chr12:40,054,175...40,072,831
Ensembl chr12:40,054,181...40,072,822
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RHOA
ras homolog family member A
disease_progression
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:12808121
RGD:2298873
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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RHOC
ras homolog family member C
ISO
mRNA:increased expression:ovary
RGD
PMID:12808121
RGD:2298873
NCBI chr 4:107,731,713...107,737,705
Ensembl chr 4:107,731,539...107,737,705
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RSPO1
R-spondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
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SIX1
SIX homeobox 1
severity
ISO
mRNA:increased expression:female gonad (human)
RGD
PMID:17409410
RGD:11561962
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
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SMAD2
SMAD family member 2
ISO
RGD
PMID:14985451
RGD:2299967
NCBI chr 1:97,415,360...97,511,388
Ensembl chr 1:97,415,716...97,511,357
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SOCS1
suppressor of cytokine signaling 1
ISO
DNA:hypermethylation
RGD
PMID:15361843
RGD:2298907
NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
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SOCS7
suppressor of cytokine signaling 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30365097
NCBI chr12:23,687,115...23,723,427
Ensembl chr12:23,688,722...23,723,363
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STK11
serine/threonine kinase 11
susceptibility
ISO
DNA:loss of heterozygosity, missense mutation:p.P281L
RGD
PMID:10429654
RGD:2298556
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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STN1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28346442
NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025
G
SYNPO2
synaptopodin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr 8:104,677,580...104,844,169
Ensembl chr 8:104,677,583...104,873,791
G
TFF1
trefoil factor 1
ISO
RGD
PMID:9066601
RGD:2292004
NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460
G
TIMP4
TIMP metallopeptidase inhibitor 4
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:17009974
RGD:2290414
NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942
G
TMT1B
thiol methyltransferase 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr 5:21,123,548...21,126,295
Ensembl chr 5:21,123,543...21,126,607
G
TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25535366
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
G
USP32
ubiquitin specific peptidase 32
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28811376
NCBI chr12:37,720,133...37,944,048
G
VEGFD
vascular endothelial growth factor D
disease_progression
ISO
RGD
PMID:18343598
RGD:2315478
NCBI chr X:11,893,254...11,933,923
Ensembl chr X:11,893,259...11,933,809
G
WNT4
Wnt family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25581431
NCBI chr 6:80,110,238...80,138,165
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ARID1A
AT-rich interaction domain 1A
treatment
ISO
human cell in mouse model
RGD
PMID:21900401
RGD:126725086
NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AGTR2
angiotensin II receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
G
ANG
angiogenin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
G
ATP6V0D2
ATPase H+ transporting V0 subunit d2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 4:50,694,188...50,749,373
Ensembl chr 4:50,694,189...50,749,378
G
C1QB
complement C1q B chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
G
CACNB3
calcium voltage-gated channel auxiliary subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 5:14,875,524...14,888,224
Ensembl chr 5:14,874,465...14,888,223
G
CDH3
cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862
G
CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 2:77,509,792...77,511,988
Ensembl chr 2:77,509,795...77,511,974
G
COL11A1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645707
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
G
FGD2
FYVE, RhoGEF and PH domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 7:32,648,260...32,674,539
Ensembl chr 7:32,648,222...32,674,529
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
G
GKN1
gastrokine 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 3:73,420,359...73,426,472
Ensembl chr 3:73,420,359...73,426,592
G
GPR34
G protein-coupled receptor 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr X:37,306,490...37,313,626
Ensembl chr X:37,306,509...37,313,923
G
IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159
G
IHH
Indian hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr15:121,083,750...121,090,548
Ensembl chr15:121,083,753...121,090,121
G
MADCAM1
mucosal vascular addressin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 2:77,784,610...77,789,036
Ensembl chr 2:77,784,612...77,789,067
G
MAGOHB
mago homolog B, exon junction complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 5:61,425,699...61,434,026
Ensembl chr 5:61,425,694...61,433,947
G
MFAP2
microfibril associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:75,607,515...75,615,680
Ensembl chr 6:75,607,521...75,615,641
G
MS4A1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 2:11,216,238...11,229,060
Ensembl chr 2:11,215,901...11,222,914
G
MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ovarian cyst
ClinVar
PMID:8872463 PMID:10564582 PMID:15849733 PMID:15955785 PMID:16216036 PMID:17312306 PMID:17569143 PMID:19419416 PMID:21778331 PMID:24244552 PMID:24362816 PMID:25559809 PMID:25712738 PMID:25741868 PMID:26467025 PMID:26552419 PMID:26845104 PMID:28492532 PMID:29360161 PMID:31615790 PMID:31692600 PMID:31948886 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
G
NCBP1
nuclear cap binding protein subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 1:239,375,150...239,468,387
Ensembl chr 1:239,396,097...239,467,758
G
NFKB1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
G
NMT2
N-myristoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr10:46,647,167...46,722,519
Ensembl chr10:46,647,179...46,722,518
G
NR2F1
nuclear receptor subfamily 2 group F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 2:100,447,661...100,457,510
Ensembl chr 2:100,447,705...100,457,506
G
NXPH2
neurexophilin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr15:12,953,062...13,073,208
Ensembl chr15:12,953,195...13,073,202
G
PEX14
peroxisomal biogenesis factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 6:70,737,871...70,872,074
Ensembl chr 6:70,737,905...70,872,072
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
G
PTGER4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
G
RPL5
ribosomal protein L5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,594...124,367,645
G
SFRP4
secreted frizzled related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 9:108,404,314...108,414,335
Ensembl chr 9:108,404,040...108,414,307
G
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
susceptibility
ISO
RGD
PMID:29684361
RGD:155804292
NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
G
TIMD4
T cell immunoglobulin and mucin domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr16:66,253,572...66,292,963
Ensembl chr16:66,253,604...66,292,961
G
TMBIM4
transmembrane BAX inhibitor motif containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 5:30,488,319...30,511,558
Ensembl chr 5:30,488,328...30,511,533
G
TMEM59L
transmembrane protein 59 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21239663
NCBI chr 2:59,211,404...59,223,017
Ensembl chr 2:59,210,792...59,223,202
G
VHL
von Hippel-Lindau tumor suppressor
susceptibility
ISO
RGD
PMID:29684361
RGD:155804292
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CD40LG
CD40 ligand
treatment
ISO
associated with Autoimmune Diseases
RGD
PMID:12574329
RGD:11531132
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
G
CGA
glycoprotein hormones, alpha polypeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20146381
NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
G
CYP19A3
cytochrome P450 19A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11985600
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1
OMIM ClinVar
PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11754099 PMID:11889179 PMID:12571157 PMID:12915623 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:22414334 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ZSWIM7
zinc finger SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 10
OMIM ClinVar
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903
NCBI chr12:59,418,905...59,434,689
Ensembl chr12:59,418,924...59,436,604
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HROB
homologous recombination factor with OB-fold
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 11
OMIM ClinVar
PMID:34707299 PMID:38105698
NCBI chr12:19,044,569...19,077,877
Ensembl chr12:19,044,043...19,077,829
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BMP15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4
OMIM ClinVar
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MLX
MAX dimerization protein MLX
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:31042289
NCBI chr12:20,249,760...20,257,543
Ensembl chr12:20,249,761...20,257,526
G
NRXN1
neurexin 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:28492532
NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,803,519...90,382,034
G
PSMC3IP
PSMC3 interacting protein
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr12:20,244,243...20,250,151
Ensembl chr12:20,244,304...20,250,159
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4
OMIM ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289
NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 5
OMIM ClinVar
PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 PMID:28718531 More...
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 6
OMIM ClinVar
PMID:25741868 PMID:26485283 PMID:28492532 PMID:34707299
NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MRPS22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ESR2
estrogen receptor 2
ISO
ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30113650
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SPIDR
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 9
OMIM ClinVar
PMID:25741868 PMID:27967308 PMID:34697795
NCBI chr 4:79,874,937...80,190,744
Ensembl chr 4:79,874,831...80,190,655
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ARHGEF10L
Rho guanine nucleotide exchange factor 10 like
susceptibility
ISO
DNA:SNP: :rs2256787(human)
RGD
PMID:29979793
RGD:14348955
NCBI chr 6:76,064,212...76,229,310
Ensembl chr 6:76,083,725...76,229,307
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CBL
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Ovarian germ cell cancer
ClinVar
PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
G
SALL4
spalt like transcription factor 4
ISO
protein:increased expression:female gonad (human)
RGD
PMID:19295406
RGD:11556233
NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GNAI2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Ovarian granulosa cell tumor
ClinVar
PMID:2116665
NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DRD2
dopamine receptor D2
treatment
ISO
RGD
PMID:25217874
RGD:13506956
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
G
F3
coagulation factor III, tissue factor
severity
ISO
protein:increased expression:plasma
RGD
PMID:12695751
RGD:11340210
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome
OMIM ClinVar
PMID:8894317 PMID:9402264 PMID:9769327 PMID:10022448 PMID:11213123 PMID:12930927 PMID:12930928 PMID:15080154 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16278261 PMID:16864747 PMID:17721928 PMID:17826728 PMID:18159088 PMID:19400992 PMID:21752882 PMID:22401810 PMID:22414334 PMID:23419799 PMID:25741868 PMID:28492532 More...
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
G
IL6
interleukin 6
ISO
protein:increased expression:serum, ascites (human)
RGD
PMID:9322101
RGD:11062135
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:25151950
RGD:126925217
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
G
NR1H3
nuclear receptor subfamily 1 group H member 3
ISO
OMIM:608115
MouseDO
NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
G
SERPINF1
serpin family F member 1
treatment
ISO
human protein in a mouse model
RGD
PMID:23295464
RGD:8635395
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
G
TFPI
tissue factor pathway inhibitor
severity
ISO
protein:decreased expression:plasma
RGD
PMID:12695751
RGD:11340210
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
G
VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:25151950
RGD:126925217
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:17611497 PMID:18954143 PMID:21793738 PMID:23237847 PMID:25741868 PMID:28492532 More...
G
ALOX12B
arachidonate 12-lipoxygenase, 12R type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993
G
ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
G
AMH
anti-Mullerian hormone
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:19424576
RGD:2315638
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:19424576
RGD:2315638
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
ANXA3
annexin A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21435174
NCBI chr 8:73,970,314...73,993,039
G
AQP3
aquaporin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18214481
NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082
G
AREG
amphiregulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15313392
NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
G
ARL11
ARF like GTPase 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17079447
NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819
G
ATF3
activating transcription factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15674352
NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
G
ATG5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28408137
NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
G
ATG7
autophagy related 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28408137
NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
G
ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
G
ATP7B
ATPase copper transporting beta
severity
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12216079
RGD:2298865
NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
G
BABAM1
BRISC and BRCA1 A complex member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852633
NCBI chr 2:60,398,170...60,407,742
Ensembl chr 2:60,398,191...60,407,557
G
BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
G
BARD1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851
G
BCL2
BCL2 apoptosis regulator
severity
ISO
RGD
PMID:18006758
RGD:2298897
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
G
BCL2L1
BCL2 like 1
ISO
RGD
PMID:17675586
RGD:1643478
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
G
BCL9
BCL9 transcription coactivator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22024689
NCBI chr 4:99,970,388...100,058,291
Ensembl chr 4:99,970,394...100,058,164
G
BIRC5
baculoviral IAP repeat containing 5
disease_progression
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:15970709 PMID:16202317 PMID:16211241 PMID:18171606 PMID:18567002
RGD:2298935 RGD:2298936
NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215
G
BNC2
basonuclin zinc finger protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852632
NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:missense mutation:exon:p.V599E (human)
RGD
PMID:18060073 PMID:19955937
RGD:2298686 RGD:2315855
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
G
BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:7545954 PMID:7611277 PMID:7663517 PMID:7795652 PMID:7837387 PMID:7894492 PMID:7894493 PMID:8531967 PMID:8533757 PMID:8554067 PMID:8595420 PMID:8595428 PMID:8644702 PMID:8644703 PMID:8755943 PMID:8807330 PMID:8833256 PMID:8841191 PMID:8968102 PMID:9042909 PMID:9145676 PMID:9145677 PMID:9150149 PMID:9150153 PMID:9150154 PMID:9333265 PMID:9525870 PMID:9536098 PMID:9634504 PMID:9663595 PMID:9667259 PMID:9760198 PMID:9805131 PMID:9836472 PMID:9840533 PMID:10090881 PMID:10196379 PMID:10227398 PMID:10441573 PMID:10447273 PMID:10464624 PMID:10486320 PMID:10502781 PMID:10505028 PMID:10528853 PMID:10615237 PMID:10644434 PMID:10739756 PMID:10788334 PMID:10811118 PMID:10885601 PMID:10923033 PMID:10952777 PMID:11030418 PMID:11102977 PMID:11102986 PMID:11157798 PMID:11179017 PMID:11251181 PMID:11260866 PMID:11278247 PMID:11320250 PMID:11385711 PMID:11389159 PMID:11391658 PMID:11410501 PMID:11462242 PMID:11466700 PMID:11504767 PMID:11597388 PMID:11606101 PMID:11710890 PMID:11739404 PMID:11802209 PMID:11844822 PMID:11896095 PMID:11920621 PMID:11938448 PMID:12097257 PMID:12112655 PMID:12125210 PMID:12181777 PMID:12204006 PMID:12360400 PMID:12393792 PMID:12400015 PMID:12402332 PMID:12402341 PMID:12491499 PMID:12505256 PMID:12566964 PMID:12601471 PMID:12655560 PMID:12672316 PMID:12732733 PMID:12752644 PMID:12771565 PMID:12810666 PMID:12827452 PMID:12938098 PMID:12955716 PMID:14534301 PMID:14576434 PMID:14647443 PMID:14729053 PMID:14760071 PMID:14986830 PMID:15024741 PMID:15060014 PMID:15131401 PMID:15133502 PMID:15133503 PMID:15145354 PMID:15172985 PMID:15217508 PMID:15235020 PMID:15290653 PMID:15365993 PMID:15383404 PMID:15569676 PMID:15712267 PMID:15865297 PMID:15876480 PMID:15951956 PMID:15951958 PMID:15994883 PMID:16030426 PMID:16168118 PMID:16227521 PMID:16267036 PMID:16287141 PMID:16403807 PMID:16489001 PMID:16515586 PMID:16528604 PMID:16541315 PMID:16615107 PMID:16644204 PMID:16683254 PMID:16777318 PMID:16847550 PMID:16998791 PMID:17148771 PMID:17221156 PMID:17305420 PMID:17307836 PMID:17308087 PMID:17319787 PMID:17576681 PMID:17591843 PMID:17688236 PMID:17922257 PMID:17924331 PMID:18036263 PMID:18071904 PMID:18159056 PMID:18228134 PMID:18243530 PMID:18334730 PMID:18413725 PMID:18431737 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18627636 PMID:18680205 PMID:18694767 PMID:18703817 PMID:18762988 PMID:18763032 PMID:18783588 PMID:18824701 PMID:18940477 PMID:18980973 PMID:19147582 PMID:19200354 PMID:19208665 PMID:19359128 PMID:19370767 PMID:19543972 PMID:19563646 PMID:19594371 PMID:19770520 PMID:19941162 PMID:19949876 PMID:19996028 PMID:20051372 PMID:20103620 PMID:20104584 PMID:20180014 PMID:20189727 PMID:20215541 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20455026 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20683152 PMID:20727672 PMID:20730485 PMID:20807450 PMID:20950396 PMID:21119707 PMID:21120943 PMID:21147080 PMID:21147198 PMID:21203900 PMID:21232165 PMID:21324516 PMID:21348412 PMID:21356067 PMID:21371001 PMID:21447777 PMID:21465171 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21553119 PMID:21559243 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21729660 PMID:21735045 PMID:21769658 PMID:21834074 PMID:21922593 PMID:21946536 PMID:21965345 PMID:21989927 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22032251 PMID:22034289 PMID:22160602 PMID:22172724 PMID:22185575 PMID:22430266 PMID:22434525 PMID:22505045 PMID:22516946 PMID:22535016 PMID:22666503 PMID:22711857 PMID:22713736 PMID:22752604 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22843421 PMID:22889855 PMID:22923021 PMID:22970155 PMID:23034506 PMID:23110154 PMID:23161852 PMID:23164213 PMID:23199084 PMID:23231788 PMID:23232912 PMID:23239986 PMID:23249957 PMID:23289006 PMID:23469205 PMID:23479189 PMID:23536787 PMID:23683081 PMID:23695190 PMID:23697973 PMID:23704984 PMID:23747895 PMID:23867111 PMID:23954390 PMID:23961350 PMID:24010542 PMID:24033266 PMID:24131973 PMID:24218521 PMID:24240112 PMID:24249303 PMID:24285858 PMID:24307375 PMID:24312913 PMID:24319668 PMID:24489791 PMID:24504028 PMID:24549055 PMID:24618965 PMID:24667779 PMID:24728189 PMID:24737347 PMID:24825132 PMID:24827135 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25036526 PMID:25066507 PMID:25085752 PMID:25085762 PMID:25186627 PMID:25330149 PMID:25400221 PMID:25418591 PMID:25428789 PMID:25452441 PMID:25476495 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25652403 PMID:25682074 PMID:25724305 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25823446 PMID:25850536 PMID:25863477 PMID:25880076 PMID:25927356 PMID:25948282 PMID:25971625 PMID:25980754 PMID:26014432 PMID:26028024 PMID:26083025 PMID:26187060 PMID:26219728 PMID:26246475 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26430151 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26556299 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26709275 PMID:26718727 PMID:26720728 PMID:26727311 PMID:26777316 PMID:26843898 PMID:26845104 PMID:26848529 PMID:26852130 PMID:27062684 PMID:27067391 PMID:27081505 PMID:27153395 PMID:27157322 PMID:27167707 PMID:27257965 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27463008 PMID:27495310 PMID:27535533 PMID:27553291 PMID:27656653 PMID:27741520 PMID:27831900 PMID:27836010 PMID:27914478 PMID:27926510 PMID:27978560 PMID:27989354 PMID:28049106 PMID:28050010 PMID:28091860 PMID:28111427 PMID:28123851 PMID:28125078 PMID:28145423 PMID:28176296 PMID:28184945 PMID:28194609 PMID:28283652 PMID:28285342 PMID:28294317 PMID:28324225 PMID:28398198 PMID:28423363 PMID:28477318 PMID:28478614 PMID:28490613 PMID:28492532 PMID:28493033 PMID:28503720 PMID:28525389 PMID:28528518 PMID:28715532 PMID:28724667 PMID:28740454 PMID:28781887 PMID:28831036 PMID:28888541 PMID:28993434 PMID:29021639 PMID:29053726 PMID:29116469 PMID:29152070 PMID:29161300 PMID:29168416 PMID:29176636 PMID:29280214 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29360161 PMID:29433453 PMID:29435039 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29492181 PMID:29506128 PMID:29550896 PMID:29625052 PMID:29752822 PMID:29758562 PMID:29790872 PMID:29797126 PMID:29907814 PMID:29961768 PMID:29998185 PMID:30014164 PMID:30067863 PMID:30078507 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30199306 PMID:30209399 PMID:30257646 PMID:30257991 PMID:30287823 PMID:30322717 PMID:30333958 PMID:30458859 PMID:30480775 PMID:30487145 PMID:30489631 PMID:30551077 PMID:30555256 PMID:30606148 PMID:30613976 PMID:30676620 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30765603 PMID:30787465 PMID:30875412 PMID:30962250 PMID:30975216 PMID:30979843 PMID:31065452 PMID:31076742 PMID:31090900 PMID:31131967 PMID:31159747 PMID:31209999 PMID:31263571 PMID:31336956 PMID:31347298 PMID:31360904 PMID:31368036 PMID:31372034 PMID:31411802 PMID:31447099 PMID:31454914 PMID:31492746 PMID:31528241 PMID:31825140 PMID:31851867 PMID:31911673 PMID:32039725 PMID:32058061 PMID:32123317 PMID:32125938 PMID:32231684 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32546644 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32733560 PMID:32741062 PMID:32778078 PMID:32782288 PMID:32832836 PMID:32854451 PMID:32856869 PMID:32885271 PMID:33087888 PMID:33087929 PMID:33151324 PMID:33302456 PMID:33309985 PMID:33442023 PMID:33449224 PMID:33471991 PMID:33484353 PMID:33507482 PMID:33558524 PMID:33646313 PMID:33674644 PMID:33726785 PMID:33758026 PMID:34242281 PMID:34290354 PMID:34657373 PMID:34680878 PMID:34981296 PMID:35039564 PMID:35220195 PMID:35264596 PMID:35409996 PMID:35464868 PMID:35659930 PMID:35918668 PMID:36003761 PMID:36329109 PMID:36367610 PMID:36612302 PMID:36988593 PMID:38386807 PMID:38785549 PMID:38922859 PMID:213324516 More...
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
G
BRCA2
BRCA2 DNA repair associated
susceptibility
ISO
ClinVar Annotator: match by term: Ovarian neoplasm ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
RGD ClinVar
PMID:2200631 PMID:8075631 PMID:8524414 PMID:8589730 PMID:8673091 PMID:8673092 PMID:8758903 PMID:8841191 PMID:8841192 PMID:8898735 PMID:8988179 PMID:9042909 PMID:9126738 PMID:9145676 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9192668 PMID:9536098 PMID:9585613 PMID:9758598 PMID:10417300 PMID:10449599 PMID:10464624 PMID:10550133 PMID:10570174 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10699917 PMID:10733239 PMID:10739756 PMID:10790213 PMID:11149425 PMID:11179017 PMID:11389159 PMID:11466700 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11896095 PMID:11897832 PMID:12097290 PMID:12402332 PMID:12461697 PMID:12473589 PMID:12569143 PMID:12624152 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14576434 PMID:14732925 PMID:15010701 PMID:15024741 PMID:15070707 PMID:15340362 PMID:15689453 PMID:15695382 PMID:15744030 PMID:15994883 PMID:16030099 PMID:16168118 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16760289 PMID:16764716 PMID:16825431 PMID:16964288 PMID:17026620 PMID:17148771 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17688236 PMID:17924331 PMID:17972171 PMID:18042939 PMID:18284688 PMID:18393245 PMID:18439106 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18593900 PMID:18607349 PMID:18704680 PMID:18783588 PMID:19016756 PMID:19043619 PMID:19188187 PMID:19241424 PMID:19530235 PMID:19574032 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19941162 PMID:19941167 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20216074 PMID:20301425 PMID:20608899 PMID:20736950 PMID:20858050 PMID:20887823 PMID:21120943 PMID:21138478 PMID:21205087 PMID:21232165 PMID:21318380 PMID:21324516 PMID:21520333 PMID:21643751 PMID:21709188 PMID:21913181 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22430266 PMID:22505045 PMID:22535016 PMID:22666503 PMID:22703879 PMID:22711857 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:22970155 PMID:23096105 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23341105 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23633455 PMID:23658460 PMID:23683081 PMID:23940062 PMID:24010542 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24156927 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24728189 PMID:24737347 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25085752 PMID:25111659 PMID:25136594 PMID:25186627 PMID:25330149 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25927356 PMID:25940717 PMID:25980754 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26439132 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26556299 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26845104 PMID:26852130 PMID:26867194 PMID:27060066 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27836010 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28152038 PMID:28176296 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28346442 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28692638 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28831036 PMID:28873162 PMID:28915716 PMID:28944232 PMID:28947987 PMID:28973083 PMID:28993434 PMID:29053726 PMID:29084914 PMID:29161300 PMID:29176636 PMID:29310832 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29433453 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29961768 PMID:29978187 PMID:30040829 PMID:30078507 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30152102 PMID:30186769 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30489631 PMID:30548481 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30630528 PMID:30702160 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30787465 PMID:30792206 PMID:30832263 PMID:30875412 PMID:30883245 PMID:30972954 PMID:31131967 PMID:31159747 PMID:31174498 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31360904 PMID:31396961 PMID:31444830 PMID:31447099 PMID:31567591 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31911673 PMID:31948886 PMID:31957001 PMID:32029870 PMID:32072338 PMID:32091409 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32778078 PMID:32782288 PMID:32824581 PMID:32846166 PMID:32853339 PMID:32885271 PMID:32923906 PMID:32959997 PMID:33077847 PMID:33087929 PMID:33287145 PMID:33372952 PMID:33461583 PMID:33461977 PMID:33471991 PMID:33558524 PMID:33608381 PMID:33670479 PMID:33801055 PMID:33808557 PMID:33891299 PMID:33918338 PMID:34022715 PMID:34072659 PMID:34296289 PMID:34308366 PMID:34309133 PMID:34399810 PMID:34413315 PMID:34445631 PMID:34657373 PMID:34680387 PMID:34687993 PMID:35264596 PMID:35741847 PMID:36292577 PMID:36623239 PMID:36721989 PMID:36988593 PMID:38417439 PMID:38922859 More...
RGD:1599505
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
G
BRIP1
BRCA1 interacting helicase 1
susceptibility
ISO
DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human) ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
RGD ClinVar
PMID:2455662 PMID:3375802 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:16199547 PMID:16280053 PMID:16430786 PMID:17033622 PMID:17145708 PMID:17342202 PMID:17596542 PMID:18414782 PMID:18426915 PMID:18483852 PMID:18628483 PMID:18978354 PMID:19127258 PMID:19197335 PMID:19584272 PMID:19763819 PMID:19935797 PMID:20639400 PMID:21165771 PMID:21279724 PMID:21345144 PMID:21356067 PMID:21409391 PMID:21964575 PMID:22006311 PMID:23161009 PMID:23555315 PMID:23644138 PMID:24033266 PMID:24123366 PMID:24240112 PMID:24448499 PMID:24556621 PMID:24584348 PMID:24728327 PMID:24763289 PMID:25186627 PMID:25318351 PMID:25330149 PMID:25374583 PMID:25452441 PMID:25722345 PMID:25741868 PMID:25807282 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26315354 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26635394 PMID:26681312 PMID:26689913 PMID:26709662 PMID:26720728 PMID:26786923 PMID:26790966 PMID:26822149 PMID:26822949 PMID:26845104 PMID:26911350 PMID:26921362 PMID:26968956 PMID:26976419 PMID:27074266 PMID:27107905 PMID:27153395 PMID:27179029 PMID:27443514 PMID:27462233 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27854218 PMID:27978560 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28492532 PMID:28503720 PMID:28528518 PMID:28678401 PMID:28767289 PMID:28796317 PMID:28873162 PMID:28888541 PMID:28911102 PMID:28991257 PMID:29053726 PMID:29368626 PMID:29596542 PMID:29625052 PMID:29641532 PMID:29788478 PMID:29922827 PMID:29961768 PMID:30086788 PMID:30093976 PMID:30254378 PMID:30256826 PMID:30262796 PMID:30295334 PMID:30322717 PMID:30374176 PMID:30414346 PMID:30426508 PMID:30612635 PMID:30651582 PMID:30680046 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31589614 PMID:31742824 PMID:31822495 PMID:31843900 PMID:31871109 PMID:31980526 PMID:32068069 PMID:32091409 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32318955 PMID:32359370 PMID:32426482 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32830346 PMID:32885271 PMID:32959997 PMID:33028645 PMID:33115781 PMID:33134171 PMID:33309985 PMID:33359728 PMID:33471991 PMID:33546375 PMID:33552952 PMID:33619228 PMID:33804961 PMID:33980423 PMID:34026625 PMID:34072463 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34570441 PMID:34585738 PMID:34646395 PMID:34887416 PMID:35022142 PMID:35205822 PMID:35264596 PMID:35467778 PMID:35534704 PMID:35734982 PMID:36315513 PMID:36845387 PMID:36896836 PMID:36988593 More...
RGD:11251782
NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847
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C6H19orf12
chromosome 6 C19orf12 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21397856
NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000
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CADM1
cell adhesion molecule 1
severity
ISO
DNA:hypermethylation
RGD
PMID:16532039
RGD:2296030
NCBI chr 9:42,644,487...42,984,934
Ensembl chr 9:42,644,431...42,985,017
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CAMKK2
calcium/calmodulin dependent protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28634229
NCBI chr14:31,307,418...31,366,504
Ensembl chr14:31,312,049...31,366,499
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CAV1
caveolin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15674352
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
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CCL5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:20400704
RGD:4891397
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCND2
cyclin D2
disease_progression
ISO
DNA:hypermethylation:promoter CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17270028
RGD:2296038
NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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CCNE1
cyclin E1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:alternative forms, increased expression:ovary protein:increased expression:ovary
CTD RGD
PMID:16116079 PMID:17647260 PMID:21397856
RGD:2289287 RGD:2296042
NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363
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CCNH
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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CD274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17360651
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CD40LG
CD40 ligand
disease_progression
ISO
RGD
PMID:20400704
RGD:4891397
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD44
CD44 molecule
ISO
mRNA:splice variants:ovary
RGD
PMID:18091389
RGD:2289345
NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153
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CD46
CD46 molecule, complement regulatory protein
disease_progression
ISO
RGD
PMID:12183422 PMID:15726105 PMID:17214367
RGD:2306065 RGD:2306066 RGD:2306067
NCBI chr 9:135,025,439...135,078,910
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CDH1
cadherin 1
susceptibility
ISO
DNA:polymorphism:3' utr:*54C>T (human) ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
RGD ClinVar
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18035404 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:22850631 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28166811 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29348693 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:30089731 PMID:30287823 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32269045 PMID:32283892 PMID:32566746 PMID:32658311 PMID:32842532 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34471991 PMID:35089076 PMID:36436516 PMID:36605468 PMID:36988593 More...
RGD:2289494
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CDK2
cyclin dependent kinase 2
disease_progression
ISO
protein:increased expression:ovary DNA, mRNA:amplification, increased expression:ovary
RGD
PMID:9426687 PMID:11585414
RGD:2298988 RGD:2298989
NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
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CDK4
cyclin dependent kinase 4
ISO
RGD
PMID:17692085
RGD:2299054
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:decreased expression:ovary
RGD
PMID:9006333
RGD:2289661
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
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CDKN1B
cyclin dependent kinase inhibitor 1B
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:ovary
CTD RGD
PMID:11376116 PMID:15701850 PMID:16391232
RGD:2293610 RGD:2299089
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression severity
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
RGD ClinVar
PMID:7881419 PMID:8570179 PMID:8653684 PMID:8727306 PMID:9916806 PMID:10738302 PMID:16397522 PMID:16896043 PMID:17242700 PMID:17493241 PMID:17713569 PMID:18025365 PMID:18337833 PMID:19523171 PMID:20093296 PMID:25023876 PMID:25741868 PMID:25780468 PMID:26467025 PMID:26581427 PMID:26681309 PMID:26775776 PMID:28492532 PMID:29263814 PMID:31567591 More...
RGD:2296050 RGD:2296051
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
DNA, mRNA:hypermethylation, decreased expression:promoter, ovary
RGD
PMID:16000597
RGD:2296065
NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
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CHEK2
checkpoint kinase 2
susceptibility
ISO
DNA:loss of heterozygosity ClinVar Annotator: match by term: Ovarian Neoplasms DNA:missense mutation:cds:p.I157T
RGD ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16828850 PMID:16880452 PMID:16883537 PMID:17085682 PMID:17145815 PMID:18172190 PMID:18381420 PMID:18484200 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21244692 PMID:21618645 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23318652 PMID:23469205 PMID:23652375 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25884806 PMID:26467025 PMID:26787654 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27442652 PMID:27621404 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28580595 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:28961279 PMID:29020732 PMID:29338689 PMID:29351919 PMID:29470806 PMID:29489754 PMID:29506128 PMID:29522266 PMID:29667044 PMID:29909568 PMID:30287823 PMID:30851065 PMID:31300551 PMID:31472684 PMID:31742824 PMID:31993860 PMID:32091409 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32566746 PMID:36222830 PMID:37055167 PMID:37149759 PMID:37449874 More...
RGD:2289706 RGD:2298482
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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CHMP4C
charged multivesicular body protein 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23535730 PMID:31043753
NCBI chr 4:54,860,481...54,895,229
Ensembl chr 4:54,859,930...54,895,192
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CRABP2
cellular retinoic acid binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35442568
NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155
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CTNNA1
catenin alpha 1
ISO
protein:decreased expression:ovary
RGD
PMID:9522220
RGD:2289798
NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334
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CTNNB1
catenin beta 1
disease_progression
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
RGD ClinVar
PMID:10192393 PMID:10391090 PMID:15381903 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
RGD:2298487
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19401270 PMID:21742513
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17372243
NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
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DESI2
desumoylating isopeptidase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21667029
NCBI chr10:17,365,649...17,416,642
Ensembl chr10:17,365,689...17,416,635
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DLC1
DLC1 Rho GTPase activating protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15674352
NCBI chr17:1,169,709...1,637,171
Ensembl chr17:1,170,208...1,637,114
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DNMT1
DNA methyltransferase 1
susceptibility
ISO
DNA:SNPs: :rs2228611,rs759920 (human)
RGD
PMID:23666104
RGD:9588645
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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DOK1
docking protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21856257
NCBI chr 3:68,494,516...68,497,374
Ensembl chr 3:68,494,520...68,497,407
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20857490
NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514
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EDNRA
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25194819
NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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EGFR
epidermal growth factor receptor
severity
ISO
protein:decreased expression:ovary CTD Direct Evidence: marker/mechanism protein:increased expression:mammary tumor cell, nucleus (human)
RGD CTD
PMID:16211241 PMID:18575766 PMID:19058255 PMID:21909139
RGD:2298499 RGD:5131867
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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EPCAM
epithelial cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20870202
NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:15457249
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:16896008 PMID:18575766
RGD:2298499 RGD:2298501
NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:18575766
RGD:2298499
NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
DNA:SNP: :rs1799793(human)
RGD
PMID:25881102
RGD:11252176
NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553
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EREG
epiregulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15313392
NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35442568
NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941
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FAM83A
family with sequence similarity 83 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34931434
NCBI chr 4:16,169,697...16,186,015
Ensembl chr 4:16,169,708...16,184,941
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FANCF
FA complementation group F
disease_progression
ISO
DNA, mRNA, protein:hypermethylation, decreased expression:ovary DNA:hypermethylation:promoter
RGD
PMID:16418574 PMID:18414472
RGD:2290044 RGD:2298507
NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
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FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21442130
NCBI chr12:922,405...937,560
Ensembl chr12:920,509...937,561
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FGF1
fibroblast growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174399
NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323
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FGF8
fibroblast growth factor 8
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:11072239
RGD:2289342
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
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FGFR2
fibroblast growth factor receptor 2
ISO
epithelial ovarian cancer (OMIM:604370); mRNA:increased expression:ovary
RGD
PMID:11593393
RGD:2289733
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%)
RGD
PMID:9569038
RGD:2289905
NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:ovarian epithelial carcinoma
RGD
PMID:11448924 PMID:11929819 PMID:15350351
RGD:2289945 RGD:2301253 RGD:2301254
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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FOLR1
folate receptor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17466904
NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,757,040...6,760,402
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FSHR
follicle stimulating hormone receptor
ISO
sex cord-stromal tumors;DNA:point mutation:F591S
RGD
PMID:9100567
RGD:1601234
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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GADD45A
growth arrest and DNA damage inducible alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17474084
NCBI chr 6:144,940,702...144,944,089
Ensembl chr 6:144,940,697...144,944,089
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GALNT3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34520102
NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435
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GPR150
G protein-coupled receptor 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303177
NCBI chr 2:102,219,767...102,223,995
Ensembl chr 2:102,222,131...102,223,426
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256
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GSK3B
glycogen synthase kinase 3 beta
severity
ISO
protein:increased expression:ovary (human)
RGD
PMID:22455883
RGD:13441553
NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
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HAUS6
HAUS augmin like complex subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31043753
NCBI chr 1:203,720,253...203,771,222
Ensembl chr 1:203,720,264...203,771,138
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HDAC1
histone deacetylase 1
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:17387270 PMID:18714364
RGD:2306205 RGD:2306215
NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
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HDAC2
histone deacetylase 2
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:17387270 PMID:18714364
RGD:2306205 RGD:2306215
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HDAC6
histone deacetylase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19010849
NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887
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HOXD1
homeobox D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852632
NCBI chr15:81,987,618...81,990,026
Ensembl chr15:81,987,769...81,990,134
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HOXD11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303177
NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282
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HOXD9
homeobox D9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075790
NCBI chr15:81,910,415...81,926,276
Ensembl chr15:81,924,142...81,926,274
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HRAS
HRas proto-oncogene, GTPase
onset
ISO
protein:increased expression:endometrial stroma (human)
RGD
PMID:9641239
RGD:13441555
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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IGFBP3
insulin like growth factor binding protein 3
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, ovary
RGD
PMID:16445635 PMID:17332286
RGD:2301467 RGD:2301468
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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IL11RA
interleukin 11 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11161848
NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19401270
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6ST
interleukin 6 cytokine family signal transducer
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11161848
NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
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INHA
inhibin subunit alpha
ISO
protein:increased expression:tumors
RGD
PMID:10435065
RGD:2290383
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
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ITGA8
integrin subunit alpha 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303177
NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,913...46,303,343
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JMJD6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,809,118...4,818,043
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KANSL1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31043753
NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916
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KDR
kinase insert domain receptor
ISO
protein:increased expression:epithelial ovarian carcinoma cells CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16835828 PMID:35917945
RGD:2291926
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KIT
KIT proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
advanced serous ovarian carcinoma; protein:increased expression:tumor:expression correlated with disease progression after first-line chemotherapy (i.e. chemotherapy resistance), p=0.029
RGD
PMID:15033665
RGD:2292422
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
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KLK10
kallikrein related peptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20686372
NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:24033266 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
mRNA:decreased expression:ovary
RGD
PMID:11994539
RGD:2289157
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
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LNPEP
leucyl and cystinyl aminopeptidase
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:7446622 PMID:15907336
RGD:2314920 RGD:2314924
NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070
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LOC100524016
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11751476
NCBI chr 3:41,025,892...41,029,302
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LOC100737875
solute carrier family 22 member 10-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:8,734,036...8,750,828
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LRRC46
leucine rich repeat containing 46
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31043753
NCBI chr12:24,083,182...24,089,663
Ensembl chr12:24,083,221...24,089,662
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LRRC59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279
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MACIR
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,357...108,753,275
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
RGD
PMID:18060073
RGD:2298686
NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
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MAP2K2
mitogen-activated protein kinase kinase 2
ISO
RGD
PMID:18060073
RGD:2298686
NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
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MAP2K4
mitogen-activated protein kinase kinase 4
disease_progression
ISO
expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system
RGD
PMID:16489030
RGD:2293338
NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238
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MAP2K7
mitogen-activated protein kinase kinase 7
no_association
ISO
expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system
RGD
PMID:16489030
RGD:2293338
NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124
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MAP3K1
mitogen-activated protein kinase kinase kinase 1
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
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MAPK1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16211241
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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MAPK3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16211241
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
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MCPH1
microcephalin 1
severity
ISO
mRNA:decreased expression:ovary (human) protein:decreased expression:ovary, nucleus
RGD
PMID:16872911 PMID:24830737
RGD:13204746 RGD:9589035
NCBI chr15:37,455,186...37,674,971
Ensembl chr15:37,455,551...37,673,633
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MECOM
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20661229
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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MGP
matrix Gla protein
ISO
mRNA:increased expression:tumor:39/39 (100%) of tumors showed >10x increase over normal tissue and 87% showed >100x increase
RGD
PMID:11358798
RGD:2293586
NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
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MKI67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21442130
NCBI chr14:137,266,622...137,296,312
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MLH1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19032668
NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
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MMP2
matrix metallopeptidase 2
susceptibility
ISO
DNA:SNP:promoter:-735C>T
RGD
PMID:18424416
RGD:2298519
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32283892 PMID:32295625 PMID:33471991 More...
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:9777949 PMID:10375096 PMID:10413423 PMID:15713769 PMID:15849733 PMID:16216036 PMID:17348456 PMID:19731080 PMID:20215533 PMID:21598002 PMID:24362816 PMID:24710284 PMID:25741868 PMID:26467025 PMID:26485756 PMID:28492532 PMID:29625052 PMID:31830689 PMID:32906206 PMID:33471991 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:18269114 PMID:24362816 PMID:25741868 PMID:28492532
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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MSR1
macrophage scavenger receptor 1
disease_progression
ISO
RGD
PMID:17510407
RGD:2306128
NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726
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MT-CYB
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:24667782 PMID:25741868
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
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MTOR
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20138251 PMID:30705370
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852632 PMID:34510316
NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
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NECTIN2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23758976
NCBI chr 6:51,317,386...51,358,665
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15674352
NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,027
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NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291911
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
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OPCML
opioid binding protein/cell adhesion molecule like
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:12819783
NCBI chr 9:59,037,711...60,141,162
Ensembl chr 9:59,037,714...60,140,839
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PAK1
p21 (RAC1) activated kinase 1
ISO
DNA:amplification
RGD
PMID:16753589
RGD:2299166
NCBI chr 9:11,830,095...11,973,074
Ensembl chr 9:11,830,095...12,020,415
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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PDGFRA
platelet derived growth factor receptor alpha
disease_progression
ISO
protein:increased expression:ovary, epithelial cell protein:decreased expression:ovary
RGD
PMID:8402626 PMID:15791568
RGD:2292199 RGD:2298578
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
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PDGFRB
platelet derived growth factor receptor beta
ISO
protein:increased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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PHB1
prohibitin 1
no_association
ISO
DNA:polymorphism:3' utr:1703C>T
RGD
PMID:12821355
RGD:2292403
NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18829572 PMID:19671852 PMID:20177704 PMID:20593314 PMID:21078999 PMID:22120714 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:33077954 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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PLEKHF1
pleckstrin homology and FYVE domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21397856
NCBI chr 6:39,786,201...39,797,578
Ensembl chr 6:39,786,199...39,797,583
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PMS2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:10480359 PMID:15256438 PMID:16472587 PMID:19132747 PMID:19526325 PMID:20205264 PMID:22703879 PMID:23709753 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
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POP4
POP4 homolog, ribonuclease P/MRP subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21397856
NCBI chr 6:39,734,523...39,745,972
Ensembl chr 6:39,734,559...39,760,953
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POU5F1
POU class 5 homeobox 1
ISO
RGD
PMID:17413979
RGD:2292434
NCBI chr 7:23,564,654...23,570,691
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PPP1CC
protein phosphatase 1 catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21397856
NCBI chr14:32,071,472...32,091,267
Ensembl chr14:32,070,545...32,091,499
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PRC1
protein regulator of cytokinesis 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31043753
NCBI chr 7:55,869,749...55,900,640
Ensembl chr 7:55,869,821...55,900,978
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:10072423 PMID:10824074 PMID:11179010 PMID:11558785 PMID:11889248 PMID:11971093 PMID:12114481 PMID:12116199 PMID:12629236 PMID:12719539 PMID:12730996 PMID:12764050 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15090472 PMID:15390068 PMID:15606901 PMID:15823482 PMID:15970950 PMID:16049031 PMID:16227559 PMID:16339143 PMID:16367892 PMID:16476817 PMID:16643317 PMID:16714300 PMID:17766365 PMID:18211709 PMID:18485927 PMID:18486522 PMID:18519021 PMID:18973255 PMID:19162522 PMID:19205068 PMID:19405094 PMID:19636047 PMID:19801972 PMID:20404107 PMID:20457763 PMID:20558392 PMID:20604804 PMID:20798600 PMID:21348451 PMID:21694720 PMID:21996382 PMID:22118943 PMID:22555654 PMID:23275044 PMID:23531835 PMID:23751051 PMID:23770917 PMID:23818421 PMID:24033266 PMID:24082139 PMID:24167364 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25877876 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26274610 PMID:26467025 PMID:26556299 PMID:26631732 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:27534820 PMID:28492532 PMID:29353703 PMID:29530980 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31324919 PMID:31409571 PMID:32870915 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:34426522 PMID:35640906 PMID:35747619 PMID:35954270 More...
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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PRTFDC1
phosphoribosyl transferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303177
NCBI chr10:50,365,654...50,458,487
Ensembl chr10:50,365,587...50,461,324
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9735393 PMID:9856571 PMID:9915974 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11918710 PMID:11948419 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16014636 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17873882 PMID:17941496 PMID:17942903 PMID:18025323 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20712882 PMID:20881644 PMID:20926450 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22520842 PMID:22595938 PMID:23117110 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23764071 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24292679 PMID:24345843 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25549896 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26467025 PMID:26619011 PMID:26773036 PMID:26795104 PMID:26798346 PMID:27426521 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28235761 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28873162 PMID:29359449 PMID:29594054 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29785012 PMID:30287823 PMID:30528446 PMID:30614812 PMID:30659124 PMID:31336731 PMID:32238909 PMID:32350270 PMID:32378608 PMID:32442409 PMID:33077954 PMID:33083010 PMID:33372952 PMID:33600059 PMID:34308366 PMID:35227301 PMID:36988593 PMID:37090027 More...
NCBI chr14:99,929,590...100,021,619
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
RGD
PMID:15867369
RGD:2300208
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
G
PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:14766256 PMID:18171606
RGD:2298936 RGD:2300209
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
G
RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:16199547 PMID:20400963 PMID:20400964 PMID:21616938 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22538716 PMID:23117857 PMID:23176254 PMID:24139550 PMID:24240112 PMID:24315737 PMID:24504028 PMID:24549055 PMID:24800917 PMID:24993905 PMID:25085752 PMID:25086635 PMID:25452441 PMID:25470109 PMID:25741868 PMID:26261251 PMID:26354865 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26848151 PMID:27230542 PMID:27433846 PMID:28123851 PMID:28135145 PMID:28152038 PMID:28492532 PMID:28767289 PMID:28802053 PMID:28905878 PMID:29053726 PMID:29255180 PMID:29278735 PMID:29416752 PMID:29522266 PMID:29625052 PMID:29758562 PMID:29922827 PMID:30216591 PMID:30306255 PMID:30426508 PMID:30927251 PMID:31874108 PMID:32295079 PMID:32359370 PMID:32659497 PMID:32854451 PMID:32885271 PMID:33333735 PMID:33471991 PMID:35039523 PMID:36099300 PMID:37253112 More...
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
G
RB1
RB transcriptional corepressor 1
disease_progression susceptibility
ISO
ClinVar Annotator: match by term: Ovarian neoplasm DNA:SNPs
RGD ClinVar
PMID:16510568 PMID:17047088 PMID:17242700 PMID:25741868 PMID:28492532
RGD:2296051 RGD:2299894 RGD:2299895
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
G
RBL2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16936753
NCBI chr 6:31,757,718...31,802,047
Ensembl chr 6:31,748,739...31,802,022
G
RELA
RELA proto-oncogene, NF-kB subunit
disease_progression
ISO
RGD
PMID:18314621
RGD:2298752
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
G
RFFL
ring finger and FYVE like domain containing E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:10749867 PMID:14704354 PMID:16199547 PMID:19327148 PMID:20665887 PMID:21111057 PMID:21822267 PMID:22275364 PMID:22415235 PMID:22652533 PMID:22986143 PMID:23372765 PMID:24130102 PMID:24240112 PMID:25445424 PMID:25452441 PMID:25741868 PMID:26057125 PMID:26083025 PMID:26261251 PMID:26296696 PMID:26467025 PMID:26659639 PMID:26681312 PMID:26822949 PMID:27083178 PMID:27153395 PMID:27273131 PMID:28008555 PMID:28423363 PMID:28492532 PMID:28724667 PMID:28821472 PMID:28874143 PMID:29020732 PMID:29053726 PMID:29255180 PMID:29348823 PMID:29409816 PMID:29566657 PMID:29758562 PMID:30111881 PMID:30165555 PMID:30927251 PMID:30980208 PMID:31300551 PMID:32068069 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32359370 PMID:32566746 PMID:32885271 PMID:32906206 PMID:33471991 PMID:33804961 PMID:33858678 PMID:34887416 PMID:34923718 PMID:35171259 PMID:35186721 PMID:35273153 PMID:35710434 PMID:36095024 PMID:36185283 PMID:36544182 PMID:36988593 More...
NCBI chr12:40,054,175...40,072,831
Ensembl chr12:40,054,181...40,072,822
G
RRAS2
RAS related 2
ISO
ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:8052619 PMID:25741868 PMID:31130282 PMID:31130285
NCBI chr 2:44,890,129...44,961,003
G
SELENBP1
selenium binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16380993 PMID:18272210
NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301
G
SKAP1
src kinase associated phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852632
NCBI chr12:24,371,699...24,680,280
Ensembl chr12:24,374,140...24,680,237
G
SKP2
S-phase kinase associated protein 2
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16525656 PMID:19636294
RGD:2315042
NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,509,310
G
SLC2A1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20138251
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
G
SLC5A5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12489024
NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266
G
SMAD6
SMAD family member 6
ISO
DNA:polymorphism:intron (human)
RGD
PMID:11078792
RGD:2300008
NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704
G
SMAD7
SMAD family member 7
ISO
DNA:polymorphism:cds
RGD
PMID:11078792
RGD:2300008
NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382
G
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
G
SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179351
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179351 PMID:18594523
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
G
SPARC
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17951402 PMID:19177197
RGD:2300019
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
G
SPDEF
SAM pointed domain containing ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18567002
NCBI chr 7:30,515,925...30,538,095
Ensembl chr 7:30,515,925...30,524,470
G
SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:16428483
RGD:1581364
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
G
SRSF1
serine and arginine rich splicing factor 1
ISO
mRNA:increased expression:epithelium of female gonad (human)
RGD
PMID:23748175
RGD:11039469
NCBI chr12:34,278,363...34,282,164
Ensembl chr12:34,272,956...34,282,162
G
SRSF10
serine and arginine rich splicing factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21072693
NCBI chr 6:81,727,893...81,741,516
Ensembl chr 6:81,727,901...81,741,496
G
ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
G
STAT3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:ovary CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15771796 PMID:21909139
RGD:2291931
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
G
SULF1
sulfatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17310998
NCBI chr 4:65,595,947...65,778,889
Ensembl chr 4:65,595,951...65,778,884
G
TERT
telomerase reverse transcriptase
ISO
protein:increased activity:ovary mRNA:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10652422 PMID:17273731 PMID:23535731
RGD:2291989 RGD:2298564
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
G
TIMP3
TIMP metallopeptidase inhibitor 3
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:17009974
RGD:2290414
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
G
TIPARP
TCDD inducible poly(ADP-ribose) polymerase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852632
NCBI chr13:96,496,386...96,524,879
Ensembl chr13:96,496,439...96,525,777
G
TLR4
toll like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21616060
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21616060
NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
G
TOP1
DNA topoisomerase I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26207989
NCBI chr17:43,710,270...43,799,700
Ensembl chr17:43,710,290...43,799,700
G
TOP2A
DNA topoisomerase II alpha
disease_progression
ISO
RGD
PMID:19270648
RGD:2315125
NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm
ClinVar
PMID:253702 PMID:1349102 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1672732 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1849234 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:4122735 PMID:7478555 PMID:7565304 PMID:7599045 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:7978053 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8075648 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8134126 PMID:8134127 PMID:8164043 PMID:8208536 PMID:8242631 PMID:8276238 PMID:8302608 PMID:8308926 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8639798 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:8825920 PMID:8829627 PMID:8843196 PMID:9047394 PMID:9067756 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9452042 PMID:9472631 PMID:9482117 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569035 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9766574 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10389749 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10497279 PMID:10519380 PMID:10554037 PMID:10557074 PMID:10567903 PMID:10589545 PMID:10653977 PMID:10713666 PMID:10732753 PMID:10753186 PMID:10754498 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:10980596 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11222779 PMID:11229518 PMID:11254385 PMID:11313981 PMID:11315715 PMID:11370630 PMID:11399766 PMID:11420676 PMID:11423991 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12007217 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12610779 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12779080 PMID:12792784 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14612556 PMID:14673037 PMID:14743206 PMID:14965603 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15221755 PMID:15308588 PMID:15342977 PMID:15381368 PMID:15390294 PMID:15564800 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16000567 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16534790 PMID:16551709 PMID:16633321 PMID:16644204 PMID:16682957 PMID:16754663 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16969106 PMID:17015838 PMID:17224268 PMID:17311302 PMID:17318340 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17591842 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17999388 PMID:18307025 PMID:18489080 PMID:18511570 PMID:18524770 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19711436 PMID:19714490 PMID:19759556 PMID:19806023 PMID:19834951 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20198344 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20436704 PMID:20478780 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20538734 PMID:20586629 PMID:20593220 PMID:20658636 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20978130 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21225465 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21331359 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21561095 PMID:21601526 PMID:21626334 PMID:21665182 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22203015 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22507745 PMID:22540896 PMID:22551548 PMID:22666503 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22862161 PMID:22869713 PMID:22878818 PMID:22887876 PMID:22915647 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23196062 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23340422 PMID:23409989 PMID:23484829 PMID:23538418 PMID:23580068 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23639785 PMID:23667202 PMID:23792586 PMID:23894400 PMID:23897043 PMID:23939625 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24251760 PMID:24256616 PMID:24278325 PMID:24307375 PMID:24382691 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24603336 PMID:24651015 PMID:24677579 PMID:24700732 PMID:24702488 PMID:24744791 PMID:24803582 PMID:24810334 PMID:24814347 PMID:24835218 PMID:24835311 PMID:24857548 PMID:24929325 PMID:25059482 PMID:25074920 PMID:25119136 PMID:25123297 PMID:25131192 PMID:25157968 PMID:25186627 PMID:25226867 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25381062 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25544776 PMID:25564201 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25612911 PMID:25619955 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25981898 PMID:26014290 PMID:26024390 PMID:26029016 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26659639 PMID:26681312 PMID:26681682 PMID:26690524 PMID:26718964 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27059324 PMID:27077130 PMID:27146902 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27726232 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28091804 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28271309 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29456621 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29620582 PMID:29625052 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29946497 PMID:29955864 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30099178 PMID:30107858 PMID:30154229 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30374176 PMID:30607672 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30980208 PMID:31050713 PMID:31060593 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31159747 PMID:31168460 PMID:31206626 PMID:31212162 PMID:31278746 PMID:31296311 PMID:31300551 PMID:31559875 PMID:31742824 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32029870 PMID:32126783 PMID:32156018 PMID:32179180 PMID:32187361 PMID:32191290 PMID:32295079 PMID:32371905 PMID:32475984 PMID:32555031 PMID:32601264 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32899294 PMID:32906206 PMID:32930885 PMID:32980694 PMID:32994724 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33245408 PMID:33251333 PMID:33300245 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33504652 PMID:33633026 PMID:33635883 PMID:33758026 PMID:33810361 PMID:33818021 PMID:33840814 PMID:33932062 PMID:34026625 PMID:34049842 PMID:34095982 PMID:34240179 PMID:34273903 PMID:34299313 PMID:34529667 PMID:34607348 PMID:34654685 PMID:34670578 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34906512 PMID:35127508 PMID:35820297 PMID:35974385 PMID:36329109 PMID:36988593 More...
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TP53BP1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712
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TP63
tumor protein p63
disease_progression
ISO
CTD Direct Evidence: marker/mechanism mRNA:alternative form (human)
CTD RGD
PMID:17998283 PMID:21266360
RGD:2315432
NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
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TP73
tumor protein p73
disease_progression
ISO
DNA:loss of heterozygosity:ovary protein:increased expression:ovary
RGD
PMID:10760569 PMID:11051237 PMID:12928725
RGD:2291833 RGD:2291834 RGD:2298530
NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
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TRIM16
tripartite motif containing 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35442568
NCBI chr12:58,926,083...58,940,642
Ensembl chr12:58,926,086...58,939,745
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TRMT11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,940,334...37,002,056
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TYMS
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21795601
NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578
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URI1
URI1 prefoldin like chaperone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21397856
NCBI chr 6:40,043,320...40,110,540
Ensembl chr 6:40,023,595...40,110,536
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VEGFA
vascular endothelial growth factor A
disease_progression
ISO
DNA:polymorphisms: :405G>C, -460C>T (human)
RGD
PMID:19509553
RGD:2315464
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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WDR77
WD repeat domain 77
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022581
NCBI chr 4:108,907,192...108,915,594
Ensembl chr 4:108,907,200...108,922,144
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WNT7A
Wnt family member 7A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174399
NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454
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XIAP
X-linked inhibitor of apoptosis
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19758744 PMID:21442130
RGD:2315847
NCBI chr X:101,399,374...101,440,021
Ensembl chr X:101,399,812...101,440,013
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YAP1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20947521
NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,226...32,925,606
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ZEB1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18622689
NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ARHGEF10L
Rho guanine nucleotide exchange factor 10 like
susceptibility
ISO
DNA:SNP:intron:rs10788679(human)
RGD
PMID:29979793
RGD:14348955
NCBI chr 6:76,064,212...76,229,310
Ensembl chr 6:76,083,725...76,229,307
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CCNG1
cyclin G1
severity
ISO
mRNA, protein:increased expression:ovary (human)
RGD
PMID:30565428
RGD:151361205
NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
ovarian serous carcinoma; DNA:loss of heterozygosity:tumor:24/28 (86%) of high-grade tumors, also decreased expression in 96/128 (75%) of tumors
RGD
PMID:16627982
RGD:2293332
NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238
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NCAM1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:25455994
RGD:40907066
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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PTEN
phosphatase and tensin homolog
exacerbates
ISO
protein:increased expression:ovary, peritoneum (human)
RGD
PMID:26166715
RGD:11532228
NCBI chr14:99,929,590...100,021,619
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WT1
WT1 transcription factor
ISO
RGD
PMID:19856421
RGD:2315539
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BIRC3
baculoviral IAP repeat containing 3
exacerbates
ISO
mRNA:increased expression:ovary (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type
ClinVar
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CCND3
cyclin D3
disease_progression
ISO
RGD
PMID:17885491
RGD:2316011
NCBI chr 7:37,087,336...37,182,462
Ensembl chr 7:37,082,097...37,181,366
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
mRNA:increased expression:ovary (human)
RGD
PMID:16180015
RGD:151361183
NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
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PRAME
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA, protein:increased expression:female gonad (human)
RGD
PMID:18709641
RGD:11535054
NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AKAP6
A-kinase anchoring protein 6
susceptibility
ISO
DNA:SNPs: :rs1955513,rs927062(human)
RGD
PMID:29979793
RGD:14348955
NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177
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ASPM
assembly factor for spindle microtubules
ISO
protein:altered expression:ovary, cytoplasm
RGD
PMID:24830737
RGD:13204746
NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
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AURKA
aurora kinase A
disease_progression
ISO
mRNA, protein:increased expression:ovary
RGD
PMID:18314619
RGD:2293872
NCBI chr17:56,954,838...56,972,435
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BRD7
bromodomain containing 7
severity
ISO
mRNA:decreased expression:ovary
RGD
PMID:24198243
RGD:9586445
NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663
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CCNB1
cyclin B1
ISO
protein:increased expression:ovary
RGD
PMID:19608149
RGD:2315936
NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377
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CCNG1
cyclin G1
disease_progression
ISO
protein:increased expression:ovary (human)
RGD
PMID:25981880
RGD:11055572
NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
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CCR2
C-C motif chemokine receptor 2
severity
ISO
DNA:silent mutation:cds: (rs4987053) (human)
RGD
PMID:20103664
RGD:6893445
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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DAXX
death domain associated protein
ISO
RGD
PMID:23539629
RGD:9587820
NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
disease_progression
ISO
DNA:snp:3' utr:c.8092C>A (human)
RGD
PMID:18640939
RGD:13204969
NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:missense mutation:cds:p.D312N (rs1799793) (human)
RGD
PMID:19786980
RGD:5688741
NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553
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FUBP1
far upstream element binding protein 1
exacerbates
ISO
protein:increased expression:epithelium of female gonad (human)
RGD
PMID:29113212 PMID:30008853
RGD:151361195 RGD:151665180
NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714
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HTRA1
HtrA serine peptidase 1
treatment
ISO
RGD
PMID:16767218
RGD:152977756
NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,041,934...132,103,595
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KIF1B
kinesin family member 1B
susceptibility
ISO
DNA:snp:intron:c.2537+518A>G (rs17401966) (human)
RGD
PMID:25854172
RGD:12738465
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
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NME1
NME/NM23 nucleoside diphosphate kinase 1
ISO
DNA:deletion
RGD
PMID:7622307
RGD:2299069
NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140
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NTM
neurotrimin
ISO
mRNA:increased expression:ovary
RGD
PMID:16115914
RGD:596948413
NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355
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PLK1
polo like kinase 1
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:14970859
RGD:2299941
NCBI chr 3:22,537,814...22,550,901
Ensembl chr 3:22,537,831...22,552,380
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PLK3
polo like kinase 3
disease_progression
ISO
protein:increased expression:ovary
RGD
PMID:14970859
RGD:2299941
NCBI chr 6:166,528,760...166,533,734
Ensembl chr 6:166,528,765...166,533,731
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PTGES
prostaglandin E synthase
ISO
protein:increased expression:ovary
RGD
PMID:17107625
RGD:2300080
NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462
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RAD51
RAD51 recombinase
no_association
ISO
DNA:polymorphisms: :135G>C, 172G>T
RGD
PMID:15924337
RGD:2298723
NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136
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RUNX3
RUNX family transcription factor 3
ISO
mRNA:expression:increased
RGD
PMID:18937968
RGD:2302556
NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
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SPARC
secreted protein acidic and cysteine rich
ISO
mRNA, protein:increased expression:stromal cell
RGD
PMID:10502421
RGD:2300027
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
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SPINK1
serine peptidase inhibitor Kazal type 1
disease_progression
ISO
RGD
PMID:15269150
RGD:2300386
NCBI chr 2:149,072,652...149,079,529
Ensembl chr 2:149,071,703...149,079,499
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SRSF3
serine and arginine rich splicing factor 3
ISO
mRNA:increased expression:epithelium of female gonad (human)
RGD
PMID:23748175
RGD:11039469
NCBI chr 7:32,289,464...32,298,652
Ensembl chr 7:32,289,480...32,298,580
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
susceptibility
ISO
DNA:SNP:CDS:rs237028 (human)
RGD
PMID:31485280
RGD:155663376
NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:26370456
RGD:11341710
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary
ClinVar
NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma
ClinVar
PMID:16084575 PMID:16455195 PMID:16949048 PMID:17100994 PMID:19656164 PMID:20033483 PMID:20104584 PMID:20950396 PMID:22160602 PMID:22217648 PMID:22382806 PMID:22762150 PMID:22798144 PMID:23633455 PMID:23961350 PMID:24728189 PMID:24916970 PMID:25741868 PMID:25863477 PMID:26402875 PMID:26467025 PMID:27167707 PMID:27836010 PMID:28111427 PMID:28492532 PMID:29348823 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30257646 PMID:30702160 PMID:32019277 More...
NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
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BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma
ClinVar
PMID:16793542 PMID:18704680 PMID:25741868
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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BSG
basigin
ISO
protein:increased expression:ovary
RGD
PMID:16633062
RGD:2289053
NCBI chr 2:77,735,586...77,743,451
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary
ClinVar
PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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TP53
tumor protein p53
ISO
DNA, protein:loss of heterozygosity, increased expression:ovary
RGD
PMID:1310251
RGD:2290540
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RSPO1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism
ClinVar
PMID:18085567
NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RSPO1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition
OMIM ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AR
androgen receptor
susceptibility
ISO
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome
ClinVar OMIM
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 PMID:2594783 PMID:2918059 PMID:7581399 PMID:7671849 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8162033 PMID:8281139 PMID:8325932 PMID:8413310 PMID:8446106 PMID:8628719 PMID:8723113 PMID:8823308 PMID:8824883 PMID:9039340 PMID:9345099 PMID:9543136 PMID:9698822 PMID:9768671 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10221692 PMID:10485299 PMID:10502786 PMID:10543676 PMID:10946887 PMID:10971094 PMID:10999818 PMID:11181525 PMID:11549642 PMID:11788616 PMID:11788645 PMID:11788673 PMID:15001585 PMID:15109605 PMID:15266301 PMID:15531547 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16450583 PMID:16804045 PMID:20011049 PMID:22334387 PMID:23808476 PMID:24186138 PMID:24321103 PMID:24737579 PMID:25241384 PMID:25326637 PMID:25613104 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26778393 PMID:26806084 PMID:27267075 PMID:27583472 PMID:28186600 PMID:28261839 PMID:28492532 PMID:28624954 PMID:29051026 PMID:29237170 PMID:29785970 PMID:30668521 PMID:32985417 PMID:33750429 PMID:35432193 PMID:36572623 PMID:37493574 More...
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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GLI2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar
PMID:19223936 PMID:21204792 PMID:22967285 PMID:23408573 PMID:25741868 PMID:28492532 More...
NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CLPP
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
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ERAL1
Era like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:28449065
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
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HARS2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26970254 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31230720 PMID:31455392 PMID:32904102 PMID:34534157 PMID:34732400 More...
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
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LARS2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:27650058 PMID:28492532 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32747562 PMID:32767731 PMID:34997062 More...
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
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TWNK
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29458409 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:35035228 More...
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CLPP
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:30311386
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
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DAP3
death associated protein 3
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223
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FBN1
fibrillin 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:25741868
NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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GON4L
gon-4 like
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
NCBI chr 4:94,161,887...94,248,785
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
ISO
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1
OMIM ClinVar
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34534157 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
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MRPL49
mitochondrial ribosomal protein L49
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,066,523...7,071,812
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PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:34715011 PMID:37558808
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HARS2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2
OMIM ClinVar
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31449985 PMID:31486067 PMID:31827252 PMID:34416374 More...
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CLPP
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3
OMIM ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:28492532 More...
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LARS2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome 4
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26657938 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28708303 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:30831263 PMID:32399598 PMID:32442335 PMID:32747562 PMID:32842620 More...
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TWNK
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome 5
OMIM ClinVar
PMID:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 PMID:37302426 More...
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ERAL1
Era like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 6
OMIM ClinVar
PMID:25741868 PMID:28449065
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AMH
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
OMIM ClinVar
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 PMID:11760020 PMID:22188863 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28505284 PMID:28528332 PMID:30668521 PMID:30786001 PMID:31277073 PMID:31291191 PMID:32172781 PMID:37004205 More...
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
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AMHR2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM ClinVar
PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28528332 PMID:31291191 PMID:32961540 PMID:33025551 PMID:34810374 More...
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCB6
ATP binding cassette subfamily B member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331
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ADAMTS7
ADAM metallopeptidase with thrombospondin type 1 motif 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:47,919,398...47,994,528
Ensembl chr 7:47,929,033...47,994,453
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ADARB1
adenosine deaminase RNA specific B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
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ADGRD2
adhesion G protein-coupled receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:265,258,847...265,275,288
Ensembl chr 1:265,259,617...265,275,248
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:16868149
RGD:8694433
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADM
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
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ADRA1A
adrenoceptor alpha 1A
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr14:10,623,391...10,733,378
Ensembl chr14:10,626,293...10,733,068
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ADRA1B
adrenoceptor alpha 1B
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,130...63,603,034
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ADRA1D
adrenoceptor alpha 1D
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr17:31,517,021...31,537,361
Ensembl chr17:31,517,021...31,538,362
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ADRB2
adrenoceptor beta 2
ISO
mRNA,protein:decreased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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ADRB3
adrenoceptor beta 3
ISO
mRNA:increased expression:gastrointestinal system mesentery, adipose tissue
RGD
PMID:19158405
RGD:2313167
NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562
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AKR1C1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16263811 PMID:21262361 PMID:22381227
NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
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AKR1C3
aldo-keto reductase family 1 member C3
ISO
RGD
PMID:8402388
RGD:11541125
NCBI chr10:65,650,223...65,679,878
Ensembl chr10:65,576,464...65,678,248
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AKT2
AKT serine/threonine kinase 2
ISO
OMIM:184700
MouseDO
NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919
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AMH
anti-Mullerian hormone
ISO
protein:increased expression:serum
RGD
PMID:17224152
RGD:1601181
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
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ANLN
anillin, actin binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,708,575
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AR
androgen receptor
no_association
ISO
RGD
PMID:15950642
RGD:1578688
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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ARHGAP23
Rho GTPase activating protein 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:23,581,698...23,667,939
Ensembl chr12:23,581,843...23,667,926
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ARHGAP30
Rho GTPase activating protein 30
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:89,375,486...89,394,190
Ensembl chr 4:89,375,526...89,394,244
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ASPM
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
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ATF1
activating transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:16,619,130...16,681,391
Ensembl chr 5:16,618,623...16,681,686
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ATP5F1B
ATP synthase F1 subunit beta
ISO
mRNA, protein:decreased expression:pancreas (rat)
RGD
PMID:28397049
RGD:13703107
NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:7,867,521...7,874,857
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BAX
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21062263
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
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BBOF1
basal body orientation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:97,316,630...97,367,526
Ensembl chr 7:97,316,711...97,368,049
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BCL11A
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:ovary
CTD RGD
PMID:21062263
RGD:10054496
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BLOC1S3
biogenesis of lysosomal organelles complex 1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:51,590,497...51,591,222
Ensembl chr 6:51,590,497...51,591,222
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BMP15
bone morphogenetic protein 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
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CAMK2D
calcium/calmodulin dependent protein kinase II delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,915,572...109,222,905
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CAPN10
calpain 10
ISO
ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to
ClinVar
PMID:11017071 PMID:11481585 PMID:12161543 PMID:14574648 PMID:14602801
NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767
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CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,521...75,241,277
G
CCNB1
cyclin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377
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CCNE2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:41,802,090...41,821,870
Ensembl chr 4:41,804,377...41,821,874
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CD36
CD36 molecule
ISO
protein:decreased expression:cardiac muscle cell
RGD
PMID:25702158
RGD:11041149
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
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CDC6
cell division cycle 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593
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CDH15
cadherin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
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CEP55
centrosomal protein 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:104,957,256...104,980,690
Ensembl chr14:104,957,311...104,980,689
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CIMAP1B
ciliary microtubule associated protein 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974
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CKS2
CDC28 protein kinase regulatory subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:904,762...910,292
Ensembl chr14:904,809...910,289
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CLDN4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925
G
CMTR2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:14,325,869...14,334,043
Ensembl chr 6:14,323,981...14,334,008
G
CNTROB
centrobin, centriole duplication and spindle assembly protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667
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COMT
catechol-O-methyltransferase
ISO
protein:increased expression:ovary
RGD
PMID:17535988
RGD:2289711
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
protein:increased activity:ovary follicle, theca cell (human)
RGD
PMID:11739466
RGD:4888511
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
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CYP19A2
cytochrome P450 19A2
ISO
mRNA, protein:decreased expresssion:ovary
RGD
PMID:23183180 PMID:23598873
RGD:7257717 RGD:7257726
NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
G
CYP19A3
cytochrome P450 19A3
susceptibility
ISO
DNA:missense mutation:cds:p.A264C (rs700519) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8265607 PMID:9177373 PMID:21262361 PMID:21282199 PMID:22381227
RGD:7257710
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
RGD
PMID:18339256
RGD:11576309
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
G
DACT3
dishevelled binding antagonist of beta catenin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:52,543,737...52,554,258
Ensembl chr 6:52,543,580...52,553,991
G
DCBLD2
discoidin, CUB and LCCL domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:160,063,742...160,160,054
Ensembl chr13:160,063,742...160,160,284
G
DDX54
DEAD-box helicase 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:38,650,660...38,668,266
Ensembl chr14:38,645,891...38,668,265
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DLG4
discs large MAGUK scaffold protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143
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DMD
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840
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ELAVL3
ELAV like RNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:70,114,475...70,134,348
Ensembl chr 2:70,117,060...70,134,348
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EMSY
EMSY transcriptional repressor, BRCA2 interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 9:10,628,053...10,715,814
Ensembl chr 9:10,628,053...10,716,396
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ERRFI1
ERBB receptor feedback inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:68,667,651...68,682,629
Ensembl chr 6:68,669,153...68,682,623
G
FBXO44
F-box protein 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:71,747,210...71,754,519
Ensembl chr 6:71,743,261...71,774,223
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FGF18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:52,724,867...52,760,246
Ensembl chr16:52,725,356...52,759,791
G
FLT4
fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126
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FOXP3
forkhead box P3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
G
FSHR
follicle stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22885925
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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FST
follistatin
ISO
DNA:polymorphism
RGD
PMID:10411917
RGD:1601259
NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421
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FUT7
fucosyltransferase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
G
GAB1
GRB2 associated binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,914
G
GDF9
growth differentiation factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026
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GIP
gastric inhibitory polypeptide
ISO
associated with Obesity; protein:increased expression:plasma (human)
RGD
PMID:19375579
RGD:2312588
NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940
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GNAS
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
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GP1BB
glycoprotein Ib platelet subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
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GPX3
glutathione peroxidase 3
treatment
ISO
RGD
PMID:35663203
RGD:401827905
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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HACD1
3-hydroxyacyl-CoA dehydratase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409
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HELLS
helicase, lymphoid specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:105,923,727...105,967,003
Ensembl chr14:105,924,536...105,955,430
G
HMMR
hyaluronan mediated motility receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936
G
HOOK3
hook microtubule tethering protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196
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HSD17B7
hydroxysteroid 17-beta dehydrogenase 7
ISO
mRNA:decreased expression:ovarian cortex (rat)
RGD
PMID:25887459
RGD:10402205
NCBI chr 4:87,720,747...87,743,037
Ensembl chr 4:87,720,118...87,742,992
G
HSD3B1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:ovary (rat)
CTD RGD
PMID:19698287 PMID:22381227
RGD:4145934
NCBI chr 4:101,565,229...101,574,110
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IGF1
insulin like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:15653207
RGD:8549491
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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IL34
interleukin 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:13,588,748...13,679,864
Ensembl chr 6:13,588,787...13,659,895
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2777199 PMID:11889176 PMID:16123091
NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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IQCC
IQ motif containing C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:88,682,922...88,685,797
Ensembl chr 6:88,683,119...88,685,796
G
ISYNA1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:59,363,672...59,367,003
Ensembl chr 2:59,363,716...59,367,002
G
JSRP1
junctional sarcoplasmic reticulum protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:76,418,508...76,422,405
Ensembl chr 2:76,418,320...76,422,263
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KICS2
KICSTOR subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:28,656,227...28,679,095
Ensembl chr 5:28,653,236...28,678,859
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KRT3
keratin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:18,075,881...18,082,119
Ensembl chr 5:18,075,864...18,082,196
G
LARP4
La ribonucleoprotein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:16,177,245...16,353,548
Ensembl chr 5:16,177,235...16,353,546
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LEP
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22381227
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11889176 PMID:20378617
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
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LIF
LIF interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
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LMNA
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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LOC100624218
MORN repeat-containing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897
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LOC102167255
leukemia inhibitory factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854
G
LPCAT2
lysophosphatidylcholine acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862
G
LRATD1
LRAT domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:122,716,029...122,720,957
Ensembl chr 3:122,716,040...122,731,791
G
LSM5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr18:40,752,390...40,755,909
Ensembl chr18:40,752,461...40,755,906
G
LTK
leukocyte receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:129,863,837...129,867,254
G
MAD2L1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 8:103,927,358...103,936,669
Ensembl chr 8:103,927,353...103,936,664
G
MANEA
mannosidase endo-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:62,887,689...62,945,586
Ensembl chr 1:62,887,881...62,945,583
G
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:40,196,873...40,241,453
Ensembl chr 3:40,196,875...40,241,291
G
MAPRE3
microtubule associated protein RP/EB family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061
G
MGAT5B
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:4,655,374...4,730,098
Ensembl chr12:4,655,379...4,730,371
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MIR222
microRNA mir-222
treatment
ISO
RNA:increased expression:blood
RGD
PMID:33230470
RGD:151893462
NCBI chr X:40,571,808...40,571,887
Ensembl chr X:40,571,808...40,571,887
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MMP2
matrix metallopeptidase 2
ISO
protein:decreased expression:ovary
RGD
PMID:21910062
RGD:9999396
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
MTNR1B
melatonin receptor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20207350
NCBI chr 9:25,556,756...25,557,792
Ensembl chr 9:25,545,390...25,558,054
G
MYBL1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:68,120,078...68,159,513
Ensembl chr 4:68,119,865...68,159,509
G
NCOA2
nuclear receptor coactivator 2
ISO
RGD
PMID:29535146
RGD:152985548
NCBI chr 4:64,888,029...65,245,757
Ensembl chr 4:64,954,238...65,246,572
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NCOA4
nuclear receptor coactivator 4
ISO
protein:increased expression:endometrium
RGD
PMID:16580389
RGD:2293533
NCBI chr14:90,505,614...90,531,302
Ensembl chr14:90,505,110...90,531,118
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NCOR1
nuclear receptor corepressor 1
ISO
DNA:hypomethylation:promoter:g.218, 224 (rat)
RGD
PMID:22349439
RGD:5688285
NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562
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NGFR
nerve growth factor receptor
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NMNAT3
nicotinamide nucleotide adenylyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:80,431,405...80,556,808
Ensembl chr13:80,429,639...80,556,790
G
NOP53
NOP53 ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:53,443,453...53,451,707
Ensembl chr 6:53,443,385...53,452,017
G
NPB
neuropeptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:1,092,643...1,093,361
Ensembl chr12:1,092,653...1,093,202
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA:increased expression:ovary
RGD
PMID:22176470
RGD:7174741
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NR3C2
nuclear receptor subfamily 3 group C member 2
treatment
ISO
RGD
PMID:31925474
RGD:401976287
NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
G
NRG1
neuregulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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PBK
PDZ binding kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:11,543,657...11,577,286
Ensembl chr14:11,543,603...11,566,702
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PDE3B
phosphodiesterase 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:44,416,934...44,614,075
Ensembl chr 2:44,412,833...44,726,216
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PDLIM4
PDZ and LIM domain 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:134,555,367...134,570,356
Ensembl chr 2:134,555,666...134,570,348
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:serum (human)
RGD
PMID:22456311
RGD:6767304
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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PGR
progesterone receptor
ISO
protein:decreased expression:ovary:
RGD
PMID:19698287
RGD:4145934
NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
G
PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
G
PNPLA2
patatin like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
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PRKD2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132
G
PTAFR
platelet activating factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:85,235,390...85,272,360
Ensembl chr 6:85,235,394...85,261,760
G
PTCRA
pre T cell antigen receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:38,006,074...38,012,193
Ensembl chr 7:38,006,050...38,012,193
G
PTGER3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286
G
PWWP2B
PWWP domain containing 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:140,635,806...140,657,675
Ensembl chr14:140,636,964...140,657,623
G
RAB2A
RAB2A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:72,800,617...72,882,183
Ensembl chr 4:72,800,623...72,882,151
G
RACGAP1
Rac GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:15,894,314...15,943,619
Ensembl chr 5:15,904,712...15,943,609
G
RARRES2
retinoic acid receptor responder 2
treatment
ISO
RGD
PMID:24762064
RGD:15036823
NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945
G
RASL10B
RAS like family 10 member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:39,783,725...39,795,283
Ensembl chr12:39,783,729...39,795,069
G
RBP4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17456573
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
G
REXO1
RNA exonuclease 1 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394
G
RHPN1
rhophilin Rho GTPase binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966
G
RP2
RP2 activator of ARL3 GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr X:41,488,866...41,534,810
Ensembl chr X:41,488,626...41,534,799
G
RPL37A
ribosomal protein L37a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:118,702,198...118,704,974
Ensembl chr15:118,702,325...118,706,909
G
RRM2
ribonucleotide reductase regulatory subunit M2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:126,357,198...126,367,145
Ensembl chr 3:126,347,819...126,365,644
G
RUNX3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
G
S100A7
S100 calcium binding protein A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:96,176,718...96,178,694
G
SAP30L
SAP30 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr16:68,695,892...68,709,952
Ensembl chr16:68,695,900...68,709,742
G
SCNN1A
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
G
SCT
secretin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841
G
SERPINE1
serpin family E member 1
ISO
protein:increased expression:plasma:
RGD
PMID:19375763
RGD:13208505
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SFTPC
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
G
SLPI
secretory leukocyte peptidase inhibitor
ISO
protein:increased expression:ovary
RGD
PMID:21910062
RGD:9999396
NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387
G
SOX15
SRY-box transcription factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:52,882,840...52,885,785
G
SPATA21
spermatogenesis associated 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:75,485,728...75,527,175
Ensembl chr 6:75,485,870...75,513,996
G
SPTBN4
spectrin beta, non-erythrocytic 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796
G
SRD5A1
steroid 5 alpha-reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543 PMID:22381227
NCBI chr16:75,309,830...75,335,438
Ensembl chr16:75,310,211...75,335,391
G
SRSF10
serine and arginine rich splicing factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:81,727,893...81,741,516
Ensembl chr 6:81,727,901...81,741,496
G
STAR
steroidogenic acute regulatory protein
ISO
protein:increased expression:ovary (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19698287 PMID:21262361
RGD:4145934
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
G
TAB1
TGF-beta activated kinase 1 (MAP3K7) binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:8,827,363...8,852,814
Ensembl chr 5:8,826,840...8,852,776
G
TBX1
T-box transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
G
TCF15
transcription factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:34,626,682...34,632,881
Ensembl chr17:34,626,670...34,633,263
G
TEAD2
TEA domain transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:54,448,183...54,462,325
Ensembl chr 6:54,448,191...54,462,210
G
TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
G
TH
tyrosine hydroxylase
ISO
mRNA,protein:increased expression:ovary
RGD
PMID:15795180
RGD:5508374
NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
G
THAP3
THAP domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:67,452,272...67,463,400
Ensembl chr 6:67,455,277...67,463,399
G
TMEFF2
transmembrane protein with EGF like and two follistatin like domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr15:96,594,901...96,856,848
Ensembl chr15:96,594,970...96,855,743
G
TMEM151A
transmembrane protein 151A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352
G
TMEM151B
transmembrane protein 151B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 7:39,265,507...39,276,289
Ensembl chr 7:39,268,056...39,307,825
G
TMF1
TATA element modulatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr13:50,442,017...50,477,363
Ensembl chr13:50,444,256...50,477,291
G
TNFSF10
TNF superfamily member 10
ISO
protein:increased expression:ovary follicle, granulosa cell
RGD
PMID:17641850
RGD:2312746
NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
G
TNPO2
transportin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264
G
TNRC6B
trinucleotide repeat containing adaptor 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 5:8,052,434...8,311,811
Ensembl chr 5:8,063,985...8,311,429
G
TONSL
tonsoku like, DNA repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167
G
TOP2A
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450
G
TTK
TTK protein kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 1:86,076,576...86,125,334
Ensembl chr 1:86,076,583...86,125,718
G
TTLL9
tubulin tyrosine ligase like 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr17:35,558,373...35,612,761
Ensembl chr17:35,558,525...35,609,033
G
UBE2H
ubiquitin conjugating enzyme E2 H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr18:18,819,612...18,932,909
Ensembl chr18:18,819,641...18,932,904
G
VDR
vitamin D receptor
susceptibility
ISO
DNA:polymorphism,haplotype: :rs731236(human)
RGD
PMID:24078159
RGD:13210783
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:serum:
RGD
PMID:15653207
RGD:8549491
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
ZMYM5
zinc finger MYM-type containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr11:576,721...630,607
Ensembl chr11:576,723...630,557
G
ZNF205
zinc finger protein 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 3:39,091,439...39,105,633
Ensembl chr 3:39,091,443...39,106,615
G
ZSWIM9
zinc finger SWIM-type containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21411543
NCBI chr 6:53,660,222...53,678,145
Ensembl chr 6:53,660,330...53,678,043
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CDON
cell adhesion associated, oncogene regulated
ISO
ClinVar Annotator: match by term: Peripheral precocious puberty
ClinVar
NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881
G
GNAS
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1594625 PMID:1944469
NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
G
GNRH1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18345393
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
G
IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21402727
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
G
KDM6A
lysine demethylase 6A
ISO
ClinVar Annotator: match by term: Peripheral precocious puberty
ClinVar
NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029
G
KISS1R
KISS1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
G
LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Peripheral precocious puberty
ClinVar
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18345393
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
G
MKRN3
makorin ring finger protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23738509
NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982
G
OFD1
OFD1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Peripheral precocious puberty
ClinVar
NCBI chr X:10,361,403...10,415,502
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Peripheral precocious puberty
ClinVar
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
G
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Precocious puberty
ClinVar
PMID:25741868
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21402727
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCA1
ATP binding cassette subfamily A member 1
ISO
mRNA:increased expression:liver, jejunum (rat)
RGD
PMID:24619822
RGD:19165129
NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
G
EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:11704758 PMID:12707859 PMID:15054402 PMID:19625339 PMID:21560189 PMID:22992991 PMID:25761052 PMID:28492532 PMID:29706645 PMID:31438897 PMID:34745209 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
G
FANCL
FA complementation group L
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:27153395 PMID:28104920 PMID:28492532 PMID:31980526 PMID:32191290 PMID:34308104 More...
NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
G
FGF10
fibroblast growth factor 10
treatment
ISO
RGD
PMID:27679811
RGD:126928135
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:24619822
RGD:19165129
NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
G
MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
G
NEK8
NIMA related kinase 8
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:23418306 PMID:25741868
NCBI chr12:44,963,095...44,975,092
Ensembl chr12:44,965,116...44,975,083
G
PEX6
peroxisomal biogenesis factor 6
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598
NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
G
POLG
DNA polymerase gamma, catalytic subunit
ISO
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: :
RGD
PMID:15351195
RGD:8694175
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
G
RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:16385572 PMID:25503501 PMID:25741868 PMID:28492532 PMID:30924587 PMID:31159747 PMID:31980526 PMID:32658311 PMID:33471991 More...
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
G
RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:21537932 PMID:22538716 PMID:23117857 PMID:25085752 PMID:25186627 PMID:25318351 PMID:25470109 PMID:25741868 PMID:26261251 PMID:26467025 PMID:26740214 PMID:28492532 PMID:29641532 PMID:30309722 PMID:30924587 PMID:33471991 PMID:36099300 PMID:36293153 More...
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
G
STAG3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Premature menopause
ClinVar
PMID:25741868
NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FAHD1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure 23
ClinVar
PMID:31000419 PMID:35991565
NCBI chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806
G
MEIOB
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: MEIOB-related condition | ClinVar Annotator: match by term: Premature ovarian failure 23
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30838384 PMID:31000419 PMID:34392356 PMID:35991565 PMID:37715646 More...
NCBI chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,732...40,133,171
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SYCP2L
synaptonemal complex protein 2 like
ISO
ClinVar Annotator: match by term: Premature ovarian failure 24
ClinVar OMIM
PMID:32303603
NCBI chr 7:7,574,153...7,647,874
Ensembl chr 7:7,574,372...7,640,989
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
C1H14orf39
chromosome 1 C14orf39 homolog
ISO
ClinVar Annotator: match by term: Idiopathic familial premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:189,330,137...189,471,874
Ensembl chr 1:189,407,490...189,470,541
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GALT
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:17876724 PMID:22461411 PMID:25741868 PMID:28492532
NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740
G
IGSF10
immunoglobulin superfamily member 10
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:28492532 PMID:31042289
NCBI chr13:91,625,421...91,679,494
Ensembl chr13:91,625,431...91,679,079
G
INHA
inhibin subunit alpha
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:24033266 PMID:25741868
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
G
LOC100623616
arylacetamide deacetylase-like
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:21681106 PMID:25666259
NCBI chr13:92,017,495...92,042,944
Ensembl chr13:92,017,548...92,042,938
G
MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:34480478
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
G
POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:14635118 PMID:25741868 PMID:27987238
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
G
SH2B1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647
NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
G
TG
thyroglobulin
ISO
ClinVar Annotator: match by term: Primary ovarian failure
ClinVar
PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ACKR3
atypical chemokine receptor 3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553
G
ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:190,277,175...190,285,957
Ensembl chr13:190,276,430...190,286,214
G
ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110
G
ADAMTS6
ADAM metallopeptidase with thrombospondin type 1 motif 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr16:43,702,519...44,010,820
Ensembl chr16:43,702,521...44,019,704
G
AFF2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr X:120,777,559...121,263,574
Ensembl chr X:120,777,734...121,263,569
G
AFP
alpha fetoprotein
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
AOPEP
aminopeptidase O (putative)
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
G
ARNTL
aryl hydrocarbon receptor nuclear translocator like
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570
G
ATG2A
autophagy related 2A
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:7,261,819...7,282,614
Ensembl chr 2:7,262,031...7,282,347
G
ATG7
autophagy related 7
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
G
ATG9B
autophagy related 9B
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr18:6,200,246...6,208,988
Ensembl chr18:6,200,639...6,208,286
G
BBS9
Bardet-Biedl syndrome 9
susceptibility
ISO
DNA:SNPs,haplotypes: :
RGD
PMID:18349106
RGD:9684994
NCBI chr18:39,663,720...40,394,244
Ensembl chr18:39,950,356...40,393,992
G
BMP15
bone morphogenetic protein 15
susceptibility
ISO
DNA:missense mutations: ;-9C>G, 308A>G, 852C>T
RGD
PMID:16508750
RGD:1599496
NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
G
BMP6
bone morphogenetic protein 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270
G
BMPR1B
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,653...124,759,406
G
BNC1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775
G
BRDT
bromodomain testis associated
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 4:125,004,897...125,062,208
Ensembl chr 4:125,004,494...125,060,392
G
BRWD1
bromodomain and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:202,776,040...202,896,545
Ensembl chr13:202,777,305...202,896,509
G
C3
complement C3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CAMSAP2
calmodulin regulated spectrin associated protein family member 2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr10:23,275,302...23,360,167
Ensembl chr10:23,275,322...23,360,167
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CCNT2
cyclin T2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr15:16,974,364...17,021,293
Ensembl chr15:16,974,038...17,021,298
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CDC7
cell division cycle 7
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 4:125,431,454...125,459,367
Ensembl chr 4:125,432,772...125,459,288
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CENPI
centromere protein I
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr X:82,776,375...82,826,651
Ensembl chr X:82,776,447...82,825,655
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CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:20713355 PMID:22114986 PMID:25503501 PMID:25619829 PMID:25741868 PMID:25980754 PMID:26467025 PMID:27553368 PMID:27751358 PMID:28492532 PMID:29522266 PMID:29761796 PMID:29922827 PMID:30441849 PMID:30613976 PMID:30851065 PMID:31398194 PMID:32090079 PMID:32183364 PMID:32957588 PMID:33471991 PMID:33919281 PMID:33925588 PMID:34072659 PMID:34903604 PMID:35220195 PMID:35643632 PMID:36360192 More...
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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CKB
creatine kinase B
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
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CROCC
ciliary rootlet coiled-coil, rootletin
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 6:75,558,558...75,606,305
Ensembl chr 6:75,559,105...75,606,299
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:34480478
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
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CYP19A3
cytochrome P450 19A3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:20048079 PMID:25741868
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
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CYP2C49
cytochrome P450 2C49
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15248218
NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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DDI1
DNA damage inducible 1 homolog 1
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 9:34,503,087...34,505,026
Ensembl chr 9:34,503,716...34,504,921
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DIAPH2
diaphanous related formin 2
susceptibility
ISO
DNA:translocation:intron:t(X;12)(q21;p1.3)
RGD
PMID:9070928
RGD:1601071
NCBI chr X:78,602,385...79,520,441
Ensembl chr X:78,602,390...79,520,428
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DMC1
DNA meiotic recombinase 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 5:9,431,236...9,470,333
Ensembl chr 5:9,431,177...9,470,113
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DMRT3
doublesex and mab-3 related transcription factor 3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:220,819,525...220,834,080
Ensembl chr 1:220,820,556...220,834,034
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DNAH1
dynein axonemal heavy chain 1
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:34,455,154...34,544,147
Ensembl chr13:34,445,498...34,544,148
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DNAH6
dynein axonemal heavy chain 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 3:59,859,858...60,114,274
Ensembl chr 3:59,859,863...60,114,365
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DPPA2
developmental pluripotency associated 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:150,186,833...150,200,612
Ensembl chr13:150,186,761...150,200,601
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EIF2B2
eukaryotic translation initiation factor 2B subunit beta
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:11704758 PMID:12707859 PMID:15054402 PMID:19625339 PMID:21560189 PMID:22992991 PMID:25761052 PMID:28492532 PMID:29706645 PMID:31438897 PMID:34745209 More...
NCBI chr 7:98,203,820...98,246,199
Ensembl chr 7:98,203,815...98,224,462
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ERCC6L2
ERCC excision repair 6 like 2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 PMID:29987015 More...
NCBI chr10:26,112,019...26,264,759
Ensembl chr10:26,112,028...26,241,148
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ESRRB
estrogen related receptor beta
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
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ESRRG
estrogen related receptor gamma
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501
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FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:28687356 PMID:28767289 PMID:33762291
NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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FANCC
FA complementation group C
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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FANCF
FA complementation group F
ISO
OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724
MouseDO
NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
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FANCL
FA complementation group L
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:19405097 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:27153395 PMID:28104920 PMID:28492532 PMID:31980526 PMID:32191290 PMID:34308104 More...
NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
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FMR1
Fragile X messenger ribonucleoprotein 1
ISO
ClinVar Annotator: match by term: Fragile x premature ovarian failure
ClinVar
PMID:25741868
NCBI chr X:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831
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FOXK2
forkhead box K2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:560,848...615,646
Ensembl chr12:560,852...615,739
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FYN
FYN proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581
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GALT
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:17876724 PMID:22461411 PMID:25741868 PMID:28492532
NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740
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GDF9
growth differentiation factor 9
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026
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GLI1
GLI family zinc finger 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421
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GREM1
gremlin 1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 1:136,617,041...136,629,293
Ensembl chr 1:136,617,105...136,629,292
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HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862
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HROB
homologous recombination factor with OB-fold
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:34707299
NCBI chr12:19,044,569...19,077,877
Ensembl chr12:19,044,043...19,077,829
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IGF2R
insulin like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
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IGSF10
immunoglobulin superfamily member 10
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr13:91,625,421...91,679,494
Ensembl chr13:91,625,431...91,679,079
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INHA
inhibin subunit alpha
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:24033266 PMID:25741868
NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
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INSL6
insulin like 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479
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JAK2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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KDR
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:24728327 PMID:25741868
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KHDRBS1
KH RNA binding domain containing, signal transduction associated 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 6:88,530,364...88,572,467
Ensembl chr 6:88,530,385...88,572,463
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LARS2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
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LEPR
leptin receptor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LOC100623616
arylacetamide deacetylase-like
ISO
ClinVar Annotator: match by term: Primary Ovarian Insufficiency
ClinVar
PMID:21681106 PMID:25666259
NCBI chr13:92,017,495...92,042,944
Ensembl chr13:92,017,548...92,042,938
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LOC106506856
uncharacterized LOC106506856
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:39192094
NCBI chr18:50,033,973...50,042,961
Ensembl chr18:50,034,031...50,042,971
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LRRC41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 6:165,134,682...165,156,915
Ensembl chr 6:165,134,690...165,156,911
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MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25480036 PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
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MECOM
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702
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MOV10
Mov10 RNA helicase
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 4:107,738,089...107,763,873
Ensembl chr 4:107,738,092...107,763,602
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MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:28492532 PMID:30924587
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
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MRPS22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:29566152 PMID:31042289
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532 PMID:29706645
NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
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NEK8
NIMA related kinase 8
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:23418306 PMID:25741868 PMID:28492532
NCBI chr12:44,963,095...44,975,092
Ensembl chr12:44,965,116...44,975,083
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26247513
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NOBOX
NOBOX oogenesis homeobox
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502
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NOS3
nitric oxide synthase 3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NOTCH2
notch receptor 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
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NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246354
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
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NR5A2
nuclear receptor subfamily 5 group A member 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,865,364
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:34480478
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
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NTRK3
neurotrophic receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327
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NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
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NUP155
nucleoporin 155
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr16:22,520,443...22,590,119
Ensembl chr16:22,516,990...22,589,838
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PADI6
peptidyl arginine deiminase 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:31042289
NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093
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PARD3
par-3 family cell polarity regulator
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr10:56,968,100...57,600,515
Ensembl chr10:56,967,434...57,600,456
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PDGFD
platelet derived growth factor D
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 9:34,388,636...34,621,227
Ensembl chr 9:34,388,643...34,621,244
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PEX6
peroxisomal biogenesis factor 6
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598
NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
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PMM2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:9140401 PMID:15844218 PMID:25355454 PMID:25497157 PMID:25741868 PMID:28492532 PMID:32635232 More...
NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701
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PNPLA7
patatin like phospholipase domain containing 7
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:31042289
G
POF1B
POF1B actin binding protein
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:16773570 PMID:25741868 PMID:28492532
NCBI chr X:68,503,170...68,579,917
Ensembl chr X:68,503,179...68,579,893
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:14635118 PMID:25741868 PMID:27987238
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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POLR3H
RNA polymerase III subunit H
ISO
MouseDO
NCBI chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,939...7,014,421
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POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
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PREPL
prolyl endopeptidase like
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525
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PRIM1
DNA primase subunit 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 5:22,064,248...22,089,441
Ensembl chr 5:22,062,989...22,089,436
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PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:28492532 PMID:31042289
NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863
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PRLR
prolactin receptor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140
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RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:16385572 PMID:25503501 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30924587 PMID:31159747 PMID:31980526 PMID:32658311 PMID:33471991 More...
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
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RAD51C
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:21537932 PMID:22476429 PMID:22538716 PMID:23117857 PMID:25085752 PMID:25186627 PMID:25318351 PMID:25470109 PMID:25741868 PMID:26261251 PMID:26467025 PMID:26740214 PMID:28492532 PMID:29641532 PMID:30309722 PMID:30924587 PMID:33471991 PMID:36099300 PMID:36293153 More...
NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,016
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RAD54L
RAD54 like
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 6:165,156,833...165,184,641
Ensembl chr 6:165,152,978...165,184,776
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REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,125,537
G
RICTOR
RPTOR independent companion of MTOR complex 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr16:24,109,934...24,250,019
Ensembl chr16:24,109,939...24,311,132
G
RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
G
SH2B1
SH2B adaptor protein 1
ISO
ClinVar Annotator: match by term: Primary Ovarian Insufficiency
ClinVar
PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647
NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
G
SIRT6
sirtuin 6
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:74,568,539...74,577,774
Ensembl chr 2:74,568,493...74,577,772
G
SLC3A1
solute carrier family 3 member 1
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454
G
SMARCD2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:33025377
NCBI chr12:15,091,926...15,101,899
Ensembl chr12:15,091,729...15,101,899
G
SOX3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578
G
SSH1
slingshot protein phosphatase 1
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr14:41,963,946...42,030,842
Ensembl chr14:41,968,466...42,025,726
G
STAG1
STAG1 cohesin complex component
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr13:77,321,872...77,863,533
Ensembl chr13:77,321,872...77,863,491
G
STAG3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:35176428
NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889
G
TG
thyroglobulin
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:8094490 PMID:16187910 PMID:28492532 PMID:31042289
NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
G
THBS1
thrombospondin 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
G
TP63
tumor protein p63
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110
NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
G
TTC16
tetratricopeptide repeat domain 16
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 1:268,215,559...268,233,175
Ensembl chr 1:268,215,850...268,233,173
G
UBR4
ubiquitin protein ligase E3 component n-recognin 4
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 6:77,568,409...77,707,991
Ensembl chr 6:77,568,415...77,708,109
G
USP53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Premature ovarian insufficiency
ClinVar
PMID:25741868
NCBI chr 8:104,500,204...104,560,711
Ensembl chr 8:104,500,252...104,560,513
G
WHAMM
WASP homolog associated with actin, golgi membranes and microtubules
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 7:52,108,867...52,140,333
Ensembl chr 7:52,108,869...52,140,203
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
G
XPNPEP2
X-prolyl aminopeptidase 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr X:106,333,785...106,363,412
Ensembl chr X:106,333,825...106,362,187
G
XPO5
exportin 5
susceptibility
ISO
DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human)
RGD
PMID:23549446
RGD:11041728
NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,531,919...38,569,582
G
ZNF462
zinc finger protein 462
ISO
ClinVar Annotator: match by term: Premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 1:248,029,136...248,181,792
Ensembl chr 1:248,031,631...248,179,784
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FMR1
Fragile X messenger ribonucleoprotein 1
ISO
ClinVar Annotator: match by term: FMR1-Related Primary Ovarian Insufficiency
OMIM ClinVar
PMID:25741868
NCBI chr X:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831
G
MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Premature ovarian failure 1
ClinVar
PMID:25480036 PMID:25741868 PMID:31042289
NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
G
NOBOX
NOBOX oogenesis homeobox
ISO
ClinVar Annotator: match by term: Premature ovarian failure 1
ClinVar
PMID:21837770 PMID:24103315 PMID:25514101 PMID:25741868 PMID:25960166 PMID:26848058 PMID:28492532 More...
NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MCM8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: MCM8-related condition | ClinVar Annotator: match by term: Premature ovarian failure 10
OMIM ClinVar
PMID:25437880 PMID:25741868 PMID:25873734 PMID:28492532 PMID:31042289
NCBI chr17:14,790,398...14,837,420
Ensembl chr17:14,790,396...14,837,416
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: Premature ovarian failure 11
ClinVar OMIM
PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25741868 PMID:25820262 PMID:26218421 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28492532 PMID:29572252 PMID:30111349 PMID:38177409 More...
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SYCE1
synaptonemal complex central element protein 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure 12
OMIM ClinVar
PMID:25062452 PMID:32917591
NCBI chr14:141,726,708...141,737,830
Ensembl chr14:141,726,208...141,735,919
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MSH5
mutS homolog 5
ISO
ClinVar Annotator: match by term: MSH5-related condition | ClinVar Annotator: match by term: Premature ovarian failure 13
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28175301 PMID:28492532
NCBI chr 7:23,852,864...23,872,760
Ensembl chr 7:23,852,918...23,872,760
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GDF9
growth differentiation factor 9
ISO
ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: Premature ovarian failure 14
OMIM ClinVar
PMID:25741868 PMID:29044499 PMID:33036707 PMID:34008892
NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: FANCM-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15
OMIM ClinVar
PMID:9536098 PMID:17289582 PMID:17576681 PMID:18174376 PMID:19379763 PMID:19737859 PMID:21681190 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26094658 PMID:26130695 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26580448 PMID:26689913 PMID:26822949 PMID:27626068 PMID:27713038 PMID:28033443 PMID:28492532 PMID:28591191 PMID:28678401 PMID:28702895 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:29217778 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29641532 PMID:29760528 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31263571 PMID:31428572 PMID:31589614 PMID:31700994 PMID:31921681 PMID:31991861 PMID:32054657 PMID:32235514 PMID:32268276 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32906206 PMID:33036707 PMID:33099839 PMID:33118316 PMID:33471991 PMID:34117267 PMID:34598035 PMID:35495172 PMID:35929646 PMID:36099812 PMID:36534659 PMID:37673932 More...
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AMH
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848
G
ANKRD31
ankyrin repeat domain 31
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:84,148,363...84,320,823
Ensembl chr 2:84,149,358...84,366,190
G
BMP15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr X:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
G
BMPR2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32368696 PMID:36675162 More...
NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
G
BNC1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure 16
OMIM ClinVar
PMID:10909 PMID:25741868
NCBI chr 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775
G
BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:11802209 PMID:12601471 PMID:15290653 PMID:16683254 PMID:17026620 PMID:17924331 PMID:17997147 PMID:18060494 PMID:18593900 PMID:18607349 PMID:18951461 PMID:21990134 PMID:22505045 PMID:22711857 PMID:24052750 PMID:24323938 PMID:24549055 PMID:25479140 PMID:25639900 PMID:25741868 PMID:25863477 PMID:26467025 PMID:26633542 PMID:27276934 PMID:27352968 PMID:28492532 PMID:28637432 PMID:28724667 PMID:28888541 PMID:29084914 PMID:29161300 PMID:29339979 PMID:29394989 PMID:29446198 PMID:29753700 PMID:29875428 PMID:29884841 PMID:29907814 PMID:29922827 PMID:29997359 PMID:30441849 PMID:30630528 PMID:30716324 PMID:30720243 PMID:31409081 PMID:31658756 PMID:31753525 PMID:32393813 PMID:32482800 PMID:32719484 PMID:32853339 PMID:32939053 PMID:33293522 PMID:33609447 PMID:33753322 PMID:33804961 PMID:35260348 PMID:35438911 More...
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
G
BRIP1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532 PMID:32091409 PMID:33471991 PMID:34326862
NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847
G
ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
G
FIGLA
folliculogenesis specific bHLH transcription factor
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 3:71,709,580...71,723,760
Ensembl chr 3:71,709,681...71,723,699
G
FOXL2
forkhead box L2
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:24728327
NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
G
FSHR
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
G
GDF9
growth differentiation factor 9
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 2:135,181,494...135,184,451
Ensembl chr 2:135,181,089...135,187,026
G
HFM1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 4:125,522,300...125,614,296
Ensembl chr 4:125,522,334...125,606,882
G
KASH5
KASH domain containing 5
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868 PMID:35708642
NCBI chr 6:54,476,989...54,501,099
Ensembl chr 6:54,477,058...54,500,887
G
MSH5
mutS homolog 5
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:25741868
NCBI chr 7:23,852,864...23,872,760
Ensembl chr 7:23,852,918...23,872,760
G
NOBOX
NOBOX oogenesis homeobox
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:17701902
NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
PMID:22028768 PMID:22907560 PMID:25122490 PMID:25741868 PMID:27169744 PMID:28492532 PMID:30425642 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
G
PGRMC1
progesterone receptor membrane component 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr X:97,735,402...97,743,424
Ensembl chr X:97,735,244...97,743,423
G
POLR2C
RNA polymerase II subunit C
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116
G
SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395
G
SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
G
SPIDR
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar
NCBI chr 4:79,874,937...80,190,744
Ensembl chr 4:79,874,831...80,190,655
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
XRCC2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure 17
OMIM ClinVar
PMID:28492532 PMID:30042186 PMID:30489636 PMID:33194656
NCBI chr18:4,808,428...4,834,281
Ensembl chr18:4,808,470...4,835,802
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
C1H14orf39
chromosome 1 C14orf39 homolog
ISO
ClinVar Annotator: match by term: Premature ovarian failure 18
OMIM ClinVar
PMID:33508233
NCBI chr 1:189,330,137...189,471,874
Ensembl chr 1:189,407,490...189,470,541
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BRME1
break repair meiotic recombinase recruitment factor 1
ISO
ClinVar Annotator: match by term: Premature ovarian failure 19
ClinVar
PMID:24033266 PMID:25066123 PMID:25741868
NCBI chr 2:65,250,844...65,273,038
Ensembl chr 2:65,252,606...65,273,038
G
CC2D1A
coiled-coil and C2 domain containing 1A
ISO
ClinVar Annotator: match by term: Premature ovarian failure 19
ClinVar
PMID:24033266 PMID:25066123 PMID:25741868
NCBI chr 2:65,235,757...65,252,481
Ensembl chr 2:65,235,758...65,252,506
G
HSF2BP
heat shock transcription factor 2 binding protein
ISO
ClinVar Annotator: match by term: Premature ovarian failure 19
OMIM ClinVar
PMID:25741868 PMID:32845237
NCBI chr13:206,545,353...206,629,151
Ensembl chr13:206,545,354...206,629,156
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TP63
tumor protein p63
ISO
ClinVar Annotator: match by term: Premature ovarian failure 21
OMIM ClinVar
PMID:25741868 PMID:30924587 PMID:35801529 PMID:36856110
NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
KASH5
KASH domain containing 5
ISO
ClinVar Annotator: match by term: Premature ovarian failure 22
OMIM ClinVar
PMID:25741868 PMID:35587281 PMID:35708642 PMID:36864840
NCBI chr 6:54,476,989...54,501,099
Ensembl chr 6:54,477,058...54,500,887
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SPATA22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 25
OMIM ClinVar
PMID:35285020
NCBI chr12:49,573,050...49,609,232
Ensembl chr12:49,576,835...49,608,237
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DIAPH2
diaphanous related formin 2
ISO
ClinVar Annotator: match by term: DIAPH2-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2A
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:78,602,385...79,520,441
Ensembl chr X:78,602,390...79,520,428
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
POF1B
POF1B actin binding protein
ISO
ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B
OMIM ClinVar
PMID:15459172 PMID:16773570 PMID:25741868 PMID:28492532
NCBI chr X:68,503,170...68,579,917
Ensembl chr X:68,503,179...68,579,893
G
ZNF711
zinc finger protein 711
ISO
ClinVar Annotator: match by term: Premature ovarian failure 2B
ClinVar
PMID:25741868
NCBI chr X:68,475,512...68,499,329
Ensembl chr X:68,475,636...68,499,321
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AGO2
argonaute RISC catalytic component 2
ISO
ClinVar Annotator: match by term: Premature ovarian failure 3
ClinVar
PMID:25741868 PMID:33199684
NCBI chr 4:2,966,794...3,012,388
Ensembl chr 4:2,919,511...3,015,334
G
FOXL2
forkhead box L2
ISO
ClinVar Annotator: match by term: Premature ovarian failure 3
OMIM ClinVar
PMID:12149404 PMID:12161610 PMID:12529855 PMID:18635577 PMID:19429596 PMID:19515849 PMID:25741868 PMID:28492532 PMID:29378385 PMID:31048069 PMID:31077882 More...
NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,708,693...79,709,825
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NOBOX
NOBOX oogenesis homeobox
ISO
ClinVar Annotator: match by term: Premature ovarian failure 5
OMIM ClinVar
PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 PMID:25741868 PMID:25960166 PMID:26848058 PMID:27798098 PMID:27836978 PMID:28492532 PMID:29067606 PMID:31042289 PMID:33116287 More...
NCBI chr 9:113,348,363...113,354,504
Ensembl chr 9:113,348,363...113,354,502
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FIGLA
folliculogenesis specific bHLH transcription factor
ISO
ClinVar Annotator: match by term: Premature ovarian failure 6
OMIM ClinVar
PMID:18499083 PMID:25314148 PMID:25741868 PMID:29914564 PMID:30474133
NCBI chr 3:71,709,580...71,723,760
Ensembl chr 3:71,709,681...71,723,699
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NR5A1
nuclear receptor subfamily 5 group A member 1
ISO
ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7
OMIM ClinVar
PMID:11038323 PMID:11932325 PMID:17940071 PMID:19246354 PMID:25741868 PMID:26523528 PMID:27855412 PMID:28492532 PMID:30067310 PMID:32655042 PMID:34008892 PMID:36572623 More...
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
STAG3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition
OMIM ClinVar
PMID:24597867 PMID:25741868 PMID:28393351 PMID:28492532 PMID:30006057
NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HFM1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: HFM1-related condition | ClinVar Annotator: match by term: Premature ovarian failure 9
OMIM ClinVar
PMID:24597873 PMID:25741868
NCBI chr 4:125,522,300...125,614,296
Ensembl chr 4:125,522,334...125,606,882
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AARS2
alanyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: AARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
OMIM ClinVar
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:28633377 PMID:29440775 PMID:29749055 PMID:29971983 PMID:30054184 PMID:30285085 PMID:30819764 PMID:31099476 PMID:31885218 PMID:32080176 PMID:33972171 PMID:35084689 PMID:35305867 More...
NCBI chr 7:39,301,020...39,314,296
Ensembl chr 7:39,301,009...39,313,860
G
POLR1C
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
ClinVar
PMID:24808023 PMID:25705216 PMID:25741868 PMID:33972171
NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 PMID:9758445 PMID:10599740 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27898418 PMID:27899157 PMID:28492532 PMID:30668521 PMID:31589614 PMID:32297288 PMID:36606580 More...
NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ADA2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
G
CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency
ClinVar
PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 More...
NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
G
SRD5A2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
OMIM ClinVar
PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 PMID:1522235 PMID:1944596 PMID:2154055 PMID:2665940 PMID:4028464 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:8784107 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9536098 PMID:9745434 PMID:9843052 PMID:10501358 PMID:10564874 PMID:10718838 PMID:10898110 PMID:10999800 PMID:11869378 PMID:12576851 PMID:12699446 PMID:12843198 PMID:14560315 PMID:14594182 PMID:15064320 PMID:15266301 PMID:15528927 PMID:15770495 PMID:16181229 PMID:16199547 PMID:17576681 PMID:17609295 PMID:18097518 PMID:18314109 PMID:18350250 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:19492581 PMID:20019388 PMID:20179965 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:20850730 PMID:21147889 PMID:21402750 PMID:21540559 PMID:21631525 PMID:21714467 PMID:22272144 PMID:22362597 PMID:22435390 PMID:22453073 PMID:22876553 PMID:23112260 PMID:23329752 PMID:23633205 PMID:24412121 PMID:24665940 PMID:24737579 PMID:24885102 PMID:25248670 PMID:25266188 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:26453174 PMID:26761946 PMID:26980298 PMID:27070133 PMID:27086719 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:28938747 PMID:29582157 PMID:29798939 PMID:30132287 PMID:30668521 PMID:30889611 PMID:30968598 PMID:31031332 PMID:31130284 PMID:31186340 PMID:31219235 PMID:31277073 PMID:31885560 PMID:32346305 PMID:32371413 PMID:32380235 PMID:32567554 PMID:32596280 PMID:32713132 PMID:32894851 PMID:33516834 PMID:33742552 PMID:33775494 PMID:35331321 PMID:35386187 PMID:35488637 PMID:35700942 PMID:36617173 More...
NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350
G
XDH
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
ClinVar
PMID:18384427 PMID:28492532
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LGR4
leucine rich repeat containing G protein-coupled receptor 4
susceptibility
ISO
ClinVar Annotator: match by term: Delayed puberty, self-limited | ClinVar Annotator: match by term: LGR4-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:32493844
NCBI chr 2:32,871,837...32,979,150
Ensembl chr 2:32,871,871...32,979,148
G
SEMA6A
semaphorin 6A
ISO
ClinVar Annotator: match by term: Delayed puberty, self-limited
ClinVar
NCBI chr 2:120,560,095...120,687,597
Ensembl chr 2:120,560,099...120,687,106
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP19A3
cytochrome P450 19A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8265607
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ZBTB16
zinc finger and BTB domain containing 16
ISO
ClinVar Annotator: match by term: SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar
PMID:11891687 PMID:18611983
NCBI chr 9:41,639,536...41,839,254
Ensembl chr 9:41,639,701...41,836,742
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty
ClinVar
PMID:10580072 PMID:11857565
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CASP3
caspase 3
ISO
RGD
PMID:29250764
RGD:13782294
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
G
GPX3
glutathione peroxidase 3
treatment
ISO
RGD
PMID:24440694
RGD:401827921
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 PMID:10053006 PMID:11055896 PMID:11241532 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16912704 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
G
HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
G
LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759
NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
ISO
ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
OMIM ClinVar
PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 PMID:19474428 PMID:22791835 PMID:23633440 PMID:23824674 PMID:24033266 PMID:25326635 PMID:25594860 PMID:25741868 PMID:27544198 PMID:28492532 PMID:31313512 More...
NCBI chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,381
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AKAP14
A-kinase anchoring protein 14
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,234,469...98,255,396
G
ATP1B4
ATPase Na+/K+ transporting family member beta 4
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,514,286...98,535,154
Ensembl chr X:98,514,305...98,535,149
G
C1GALT1C1
C1GALT1 specific chaperone 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,752,711...98,758,428
G
CUL4B
cullin 4B
ISO
ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-related condition | ClinVar Annotator: match by term: CUL4B-related disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked
OMIM ClinVar
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
NCBI chr X:98,668,945...98,730,582
Ensembl chr X:98,668,953...98,730,565
G
DOCK11
dedicator of cytokinesis 11
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,068,488...97,267,528
Ensembl chr X:97,068,355...97,267,517
G
IL13RA1
interleukin 13 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,300,960...97,353,754
Ensembl chr X:97,300,466...97,356,133
G
KIAA1210
KIAA1210 ortholog
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,581,400...97,651,765
G
LAMP2
lysosomal associated membrane protein 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,586,718...98,623,939
Ensembl chr X:98,581,992...98,623,940
G
LOC100738684
malignant T-cell-amplified sequence 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr10:65,704,921...65,705,734
G
LOC102157657
uncharacterized LOC102157657
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,304,777...98,310,448
G
LONRF3
LON peptidase N-terminal domain and ring finger 3
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,494,305...97,547,813
Ensembl chr X:97,494,328...97,534,185
G
NDUFA1
NADH:ubiquinone oxidoreductase subunit A1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,219,717...98,223,873
Ensembl chr X:98,219,988...98,223,868
G
NKAP
NFKB activating protein
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,233,504...98,276,839
Ensembl chr X:98,256,632...98,276,773
G
NKRF
NFKB repressing factor
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,008,870...98,025,423
Ensembl chr X:98,007,910...98,025,373
G
PGRMC1
progesterone receptor membrane component 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,735,402...97,743,424
Ensembl chr X:97,735,244...97,743,423
G
RNF113A
ring finger protein 113A
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,218,689...98,219,931
Ensembl chr X:98,218,565...98,219,773
G
RPL39
ribosomal protein L39
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,178,148...98,181,439
Ensembl chr X:98,178,155...98,181,598
G
SEPTIN6
septin 6
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,033,212...98,106,082
Ensembl chr X:98,031,890...98,161,607
G
SLC25A43
solute carrier family 25 member 43
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,868,804...97,906,771
Ensembl chr X:97,868,696...97,906,760
G
SLC25A5
solute carrier family 25 member 5
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,919,295...97,922,245
Ensembl chr X:97,919,290...97,922,239
G
SOWAHD
sosondowah ankyrin repeat domain family member D
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,154,437...98,158,808
Ensembl chr X:98,156,970...98,158,807
G
STEEP1
STING1 ER exit protein 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,974,596...97,986,281
Ensembl chr X:97,974,604...97,986,278
G
TMEM255A
transmembrane protein 255A
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,412,286...98,464,683
Ensembl chr X:98,413,949...98,464,660
G
UBE2A
ubiquitin conjugating enzyme E2 A
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:97,925,136...98,007,551
Ensembl chr X:97,925,131...98,012,278
G
UPF3B
UPF3B regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,184,646...98,206,135
Ensembl chr X:98,182,272...98,206,096
G
ZBTB33
zinc finger and BTB domain containing 33
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
NCBI chr X:98,370,137...98,413,686
Ensembl chr X:98,405,319...98,414,279
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GATA4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease
OMIM ClinVar
PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20874241 PMID:21110066 PMID:21220346 PMID:21519287 PMID:21637475 PMID:23138528 PMID:23626780 PMID:23696316 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27139165 PMID:27426723 PMID:27899157 PMID:28161810 PMID:28471988 PMID:28492532 PMID:29670578 PMID:29735817 PMID:30293987 PMID:30455927 PMID:31513339 PMID:32719394 PMID:32748548 PMID:32901917 PMID:32992319 More...
NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
BCL10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar
PMID:10582682
NCBI chr 4:130,645,427...130,653,317
Ensembl chr 4:130,645,216...130,657,995
G
FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Cancer of the testes
ClinVar
PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8858131 PMID:9438390 PMID:9452043 PMID:9672519 PMID:9677066 PMID:10073901 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10607835 PMID:10696568 PMID:10777366 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11529856 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:15517832 PMID:15772091 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17320202 PMID:17384684 PMID:17875876 PMID:18000976 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22045636 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar
PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
LOC100739508
glutathione S-transferase P-like
ISO
RGD
PMID:9111193
RGD:6906883
NCBI chr 2:5,005,498...5,009,247
G
SLCO1B2
solute carrier organic anion transporter family member 1B2
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:21625523
RGD:152995425
NCBI chr 5:52,137,454...52,206,236
G
STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar
PMID:9605748 PMID:9887330 PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 More...
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ATP7B
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38761876
NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
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FASLG
Fas ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429229
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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IGSF1
immunoglobulin superfamily member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143598
NCBI chr X:107,674,966...108,050,736
Ensembl chr X:107,674,972...107,691,141
G
PPP3CA
protein phosphatase 3 catalytic subunit alpha
treatment
ISO
CTD Direct Evidence: marker/mechanism associated with Cadmium Poisoning
CTD RGD
PMID:17785681
RGD:13515119
NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105
G
TSC22D3
TSC22 domain family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:88,171,325...88,233,583
Ensembl chr X:88,230,048...88,233,098
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:7647778 PMID:8078586 PMID:8723101 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10094188 PMID:10425034 PMID:10671061 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:19088846 PMID:19215249 PMID:20301540 PMID:20301588 PMID:20301628 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:26740388 PMID:26818779 PMID:28492532 PMID:32238909 PMID:36474027 More...
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALOX12B
arachidonate 12-lipoxygenase, 12R type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993
G
ALOX5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
G
BCL10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: MALE GERM CELL TUMOR, SOMATIC
OMIM ClinVar
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25365219 PMID:28492532 PMID:32008135 More...
NCBI chr 4:130,645,427...130,653,317
Ensembl chr 4:130,645,216...130,657,995
G
BIRC3
baculoviral IAP repeat containing 3
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242
G
BIRC5
baculoviral IAP repeat containing 5
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215
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BIRC6
baculoviral IAP repeat containing 6
disease_progression
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477
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DAZL
deleted in azoospermia like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr13:3,762,896...3,783,848
Ensembl chr13:3,764,784...3,782,818
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EIF2S2
eukaryotic translation initiation factor 2 subunit beta
ISO
RGD
PMID:19168544
RGD:10755431
NCBI chr17:37,551,182...37,570,269
Ensembl chr17:37,538,321...37,570,224
G
FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Testicular germ cell tumor
OMIM ClinVar
PMID:7647778 PMID:8078586 PMID:8723101 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10094188 PMID:10425034 PMID:10671061 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:19088846 PMID:19215249 PMID:20301540 PMID:20301588 PMID:20301628 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:26740388 PMID:26818779 PMID:28492532 PMID:32238909 PMID:36474027 More...
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
G
HPGDS
hematopoietic prostaglandin D synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr 8:125,375,906...125,406,066
Ensembl chr 8:125,375,867...125,405,955
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor
OMIM ClinVar
PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532
NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
G
LOC100622859
baculoviral IAP repeat-containing protein 2
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
G
MAD1L1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr 3:1,236,066...1,559,346
Ensembl chr 3:1,236,076...1,559,041
G
MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22321834
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
G
NAIP
NLR family apoptosis inhibitory protein
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr16:47,700,869...47,710,036
G
PITX1
paired like homeodomain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,200,423...137,206,979
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PRDM14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr 4:65,273,988...65,295,362
Ensembl chr 4:65,271,315...65,295,178
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RFWD3
ring finger and WD repeat domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr 6:12,952,243...12,994,053
Ensembl chr 6:12,952,253...12,994,052
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SALL4
spalt like transcription factor 4
ISO
protein:increased expression:testis (human)
RGD
PMID:19390421
RGD:11556205
NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CYP2E1
cytochrome P450 family 2 subfamily E member 1
treatment
ISO
RGD
PMID:27130490
RGD:14700916
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
G
FAS
Fas cell surface death receptor
ISO
mRNA:increased expression:testis (rat)
RGD
PMID:9112408
RGD:8662900
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:decreased expression:testis
RGD
PMID:31923814
RGD:329951021
NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
G
G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:25446862
RGD:10401887
NCBI chr X:125,029,147...125,041,040
Ensembl chr X:125,029,150...125,041,040
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GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:25446862
RGD:10401887
NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MYD88
MYD88 innate immune signal transduction adaptor
ISO
associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human)
RGD
PMID:28868954
RGD:150524335
NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:testis
RGD
PMID:14767568
RGD:2315609
NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903
G
ATF7IP
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20543847
NCBI chr 5:58,022,734...58,149,980
Ensembl chr 5:58,022,741...58,133,399
G
BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
G
CCNA1
cyclin A1
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:15800920
RGD:2289152
NCBI chr11:12,396,149...12,405,357
Ensembl chr11:12,396,301...12,405,350
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CCND2
cyclin D2
ISO
mRNA:increased expression:testis
RGD
PMID:15800920
RGD:2289152
NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression:testis
RGD
PMID:11376116
RGD:2293610
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
G
DMRT1
doublesex and mab-3 related transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20543847
NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19956886
NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
G
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19956886
NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151
G
FGF9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33172093
NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
G
KITLG
KIT ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19483681 PMID:19483682
NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
G
KLK10
kallikrein related peptidase 10
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:11920956
RGD:2314851
NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12483540
RGD:2317686
NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
G
PCNA
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744
G
PLAAT3
phospholipase A and acyltransferase 3
ISO
non-seminoma testicular germ cell tumors; mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors
RGD
PMID:11526504
RGD:2290002
NCBI chr 2:8,410,540...8,444,604
Ensembl chr 2:8,413,388...8,444,595
G
RNF4
ring finger protein 4
ISO
mRNA:decreased expression:testes (human)
RGD
PMID:14644130
RGD:9831408
NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634
G
SMAD1
SMAD family member 1
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994
G
SMAD5
SMAD family member 5
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr 2:138,287,635...138,344,092
Ensembl chr 2:138,287,710...138,344,762
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
APAF1
apoptotic peptidase activating factor 1
treatment
ISO
RGD
PMID:27748062
RGD:13703108
NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364
G
BAX
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:26754107
RGD:11555349
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
G
BCL2
BCL2 apoptosis regulator
ISO
RGD
PMID:26754107
RGD:11555349
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
G
CASP3
caspase 3
ISO
RGD
PMID:26754107
RGD:11555349
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
G
CASP9
caspase 9
ISO
RGD
PMID:26754107
RGD:11555349
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:testes (rat)
RGD
PMID:12193413
RGD:632997
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:23142244
RGD:10755740
G
MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:15944243
RGD:13800876
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
G
MAPK3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:15944243
RGD:13800876
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
G
NOS3
nitric oxide synthase 3
ISO
protein:increased expression:testis
RGD
PMID:18205898
RGD:2292105
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
G
UCHL5
ubiquitin C-terminal hydrolase L5
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:24189580
RGD:9588240
NCBI chr10:725,688...761,633
Ensembl chr10:725,561...763,985
G
XDH
xanthine dehydrogenase
treatment
ISO
RGD
PMID:23769121
RGD:7247698
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GNAI2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Thecoma, somatic
ClinVar
PMID:2116665
NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
IGF1
insulin like growth factor 1
ISO
protein:decreased activity:serum:
RGD
PMID:17067837
RGD:12743588
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
G
IGFBP3
insulin like growth factor binding protein 3
treatment
ISO
DNA:SNP: :¿¿¿202 A>C(rs2854744)(human)
RGD
PMID:17067837 PMID:22278433
RGD:12743588 RGD:12743598
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
G
NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
PTCH1
patched 1
ISO
ClinVar Annotator: match by term: Turner syndrome
ClinVar
PMID:25741868
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
G
SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
G
VDR
vitamin D receptor
susceptibility
ISO
DNA:SNP: :rs7975232(human)
RGD
PMID:21823528
RGD:13432073
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ELP4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077
G
PAX6
paired box 6
ISO
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 More...
NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
G
WT1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36349777 PMID:36980135 More...
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAB18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:38,970,381...39,004,975
Ensembl chr10:38,970,586...39,004,971
G
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
G
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
G
TBC1D20
TBC1 domain family member 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,347...34,779,701
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1
OMIM ClinVar
PMID:8249951 PMID:9536098 PMID:15216542 PMID:15216543 PMID:15696165 PMID:16199547 PMID:17351351 PMID:17576681 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23176487 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28454995 PMID:28492532 PMID:29300443 PMID:29878067 PMID:30202406 PMID:30730599 PMID:31319225 PMID:32740904 PMID:32870266 PMID:33951304 PMID:34702808 More...
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2
OMIM ClinVar
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RAB18
RAB18, member RAS oncogene family
ISO
ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM ClinVar
PMID:18414213 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 More...
NCBI chr10:38,970,381...39,004,975
Ensembl chr10:38,970,586...39,004,971
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
TBC1D20
TBC1 domain family member 20
ISO
ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM ClinVar
PMID:24239381 PMID:25741868 PMID:28492532 PMID:32740904
NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,347...34,779,701
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HDAC8
histone deacetylase 8
ISO
DNA:snp:intron:c.164+5G>A (human)
RGD
PMID:22889856
RGD:13208817
NCBI chr X:58,210,182...58,450,681
Ensembl chr X:58,210,192...58,450,573
G
LAS1L
LAS1 like ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: LAS1L-related condition | ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532
NCBI chr X:51,753,600...51,773,416
Ensembl chr X:51,741,965...51,773,411
G
ZC3H12B
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wilson-Turner syndrome
ClinVar
NCBI chr X:51,231,526...51,749,627
Ensembl chr X:51,502,732...51,749,625
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DCAF17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
OMIM ClinVar
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:18049083 PMID:18175354 PMID:18414213 PMID:19026396 PMID:20507343 PMID:21044051 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25326637 PMID:25741868 PMID:26612766 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 PMID:29178422 PMID:29546359 PMID:31323129 PMID:31347785 PMID:35876063 More...
NCBI chr15:77,564,629...77,603,913
Ensembl chr15:77,564,646...77,603,620
G
METTL8
methyltransferase 8, tRNA N3-cytidine
ISO
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 PMID:25741868 PMID:26612766 PMID:28492532 PMID:31323129 More...
NCBI chr15:77,477,229...77,564,492
Ensembl chr15:77,477,231...77,525,714
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ATRX
ATRX chromatin remodeler
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 | ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME
OMIM ClinVar
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:22995991 PMID:23681356 PMID:23820649 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29706636 PMID:29910053 PMID:31130284 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 More...
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
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EPOR
erythropoietin receptor
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome
ClinVar
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
G
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome
ClinVar
PMID:25741868
NCBI chr X:46,281,958...46,444,315
Ensembl chr X:46,281,967...46,444,228
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SLC30A7
solute carrier family 30 member 7
ISO
ClinVar Annotator: match by term: Ziegler-Huang syndrome
ClinVar OMIM
PMID:25741868 PMID:36821639
NCBI chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495
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