Term: | Abnormal external genitalia morphology |
|
Accession: | HP:0000811
|
browse the term
|
Definition: | A structural anomaly of the external genitalia. |
Synonyms: | exact_synonym: | Abnormal external genitalia |
| xref: | UMLS:C4025825 |
|
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
|
|
G |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
|
IAGP |
|
HPO |
|
ORPHA:556030 |
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
|
|
G |
H19 |
H19 imprinted maternally expressed transcript |
|
IAGP |
|
HPO |
|
ORPHA:231140 |
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:231140 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
|
|
G |
KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
|
G |
ISL1 |
ISL LIM homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:93930 |
NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
|
|
G |
TALDO1 |
transaldolase 1 |
|
IAGP |
|
HPO |
|
ORPHA:101028 |
NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:93930 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
|
G |
CASZ1 |
castor zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
|
|
G |
CBX2 |
chromobox 2 |
|
IAGP |
|
HPO |
|
MIM:613080 |
NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983
|
|
G |
CXCR4 |
C-X-C motif chemokine receptor 4 |
|
IAGP |
|
HPO |
|
MIM:193670 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
|
|
G |
DHH |
desert hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
ORPHA:168563 |
NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801
|
|
G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
IAGP |
ClinVar Annotator: match by term: Abnormality of female external genitalia |
ClinVar |
PMID:25741868 PMID:30755392 |
|
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
|
|
G |
KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
|
|
G |
LIG4 |
DNA ligase 4 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
|
|
G |
LUZP1 |
leucine zipper protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
|
|
G |
MMP23B |
matrix metallopeptidase 23B |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
|
|
G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
|
|
G |
PCNT |
pericentrin |
|
IAGP |
|
HPO |
|
ORPHA:2637 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
|
|
G |
PDE4D |
phosphodiesterase 4D |
|
IAGP |
|
HPO |
|
ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
|
|
G |
PDPN |
podoplanin |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PRDM16 |
PR/SET domain 16 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
|
|
G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
IAGP |
|
HPO |
|
ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
|
|
G |
PRKCZ |
protein kinase C zeta |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
|
|
G |
RERE |
arginine-glutamic acid dipeptide repeats |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Abnormal female external genitalia morphology |
ClinVar |
PMID:25741868 PMID:30755392 |
|
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
|
|
G |
SKI |
SKI proto-oncogene |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
|
|
G |
SPEN |
spen family transcriptional repressor |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
MIM:400044 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TWIST2 |
twist family bHLH transcription factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:920 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
|
|
G |
UBE4B |
ubiquitination factor E4B |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
|
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
LIPE |
lipase E, hormone sensitive type |
|
IAGP |
|
HPO |
|
ORPHA:435660 |
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388
|
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
|
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
MIM:400044 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
USP26 |
ubiquitin specific peptidase 26 |
|
IAGP |
|
HPO |
|
MIM:301101 |
NCBI chr X:133,023,168...133,097,109
Ensembl chr X:133,023,168...133,097,109
|
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:3339 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
|
|
G |
SDHC |
succinate dehydrogenase complex subunit C |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
|
|
G |
SDHD |
succinate dehydrogenase complex subunit D |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
|
|
G |
SEC23B |
SEC23 homolog B, COPII coat complex component |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
USF3 |
upstream transcription factor family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
|
|
G |
WNT4 |
Wnt family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:139466 |
NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
|
G |
ACTB |
actin beta |
|
IAGP |
|
HPO |
|
ORPHA:64755 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MAPRE2 |
microtubule associated protein RP/EB family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:2505 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TUBB |
tubulin beta class I |
|
IAGP |
|
HPO |
|
ORPHA:2505 |
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
|
|
|
G |
ATM |
ATM serine/threonine kinase |
|
IAGP |
|
HPO |
|
ORPHA:100 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
CTC1 |
CST telomere replication complex component 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
|
|
G |
DKC1 |
dyskerin pseudouridine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
|
|
G |
EHMT1 |
euchromatic histone lysine methyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:96147 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
|
|
G |
GNAS |
GNAS complex locus |
|
IAGP |
|
HPO |
|
ORPHA:562 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
KDSR |
3-ketodihydrosphingosine reductase |
|
IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
|
|
G |
LMNA |
lamin A/C |
|
IAGP |
|
HPO |
|
ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
NHP2 |
NHP2 ribonucleoprotein |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
|
|
G |
NOP10 |
NOP10 ribonucleoprotein |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
|
|
G |
NPM1 |
nucleophosmin 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
PARN |
poly(A)-specific ribonuclease |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
|
IAGP |
|
HPO |
|
ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
|
|
G |
TERC |
telomerase RNA component |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
|
|
G |
TERT |
telomerase reverse transcriptase |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
|
|
G |
TINF2 |
TERF1 interacting nuclear factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
|
|
G |
TYMS |
thymidylate synthetase |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
|
|
G |
WRAP53 |
WD repeat containing antisense to TP53 |
|
IAGP |
|
HPO |
|
ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
|
|
G |
WRN |
WRN RecQ like helicase |
|
IAGP |
|
HPO |
|
ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
LHB |
luteinizing hormone subunit beta |
|
IAGP |
|
HPO |
|
MIM:228300 |
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
ORPHA:3063 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
|
G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
|
IAGP |
|
HPO |
|
MIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
|
|
G |
MAB21L1 |
mab-21 like 1 |
|
IAGP |
|
HPO |
|
ORPHA:495875 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
|
|
G |
MYH3 |
myosin heavy chain 3 |
|
IAGP |
|
HPO |
|
ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
|
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
MIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
|
|
G |
WNT3 |
Wnt family member 3 |
|
IAGP |
|
HPO |
|
MIM:273395 |
NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
|
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
MAB21L1 |
mab-21 like 1 |
|
IAGP |
|
HPO |
|
MIM:618479 ORPHA:495875 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
GDF6 |
growth differentiation factor 6 |
|
IAGP |
|
HPO |
|
MIM:613094 |
NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
AKR1C2 |
aldo-keto reductase family 1 member C2 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
|
|
G |
AKR1C4 |
aldo-keto reductase family 1 member C4 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
ORPHA:90797 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ARX |
aristaless related homeobox |
|
IAGP |
|
HPO |
|
MIM:300215 ORPHA:452 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
ClinVar Annotator: match by term: Ambiguous genitalia |
HPO ClinVar |
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
|
ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
|
|
G |
B9D1 |
B9 domain containing 1 |
|
IAGP |
|
HPO |
|
MIM:614209 ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
|
|
G |
B9D2 |
B9 domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
IAGP |
|
HPO |
|
ORPHA:893 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
|
|
G |
BMP15 |
bone morphogenetic protein 15 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641
|
|
G |
BNC1 |
basonuclin zinc finger protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
|
|
G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
MIM:257300 ORPHA:1052 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
BUB3 |
BUB3 mitotic checkpoint protein |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
|
|
G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CEP120 |
centrosomal protein 120 |
|
IAGP |
|
HPO |
|
MIM:616300 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
|
|
G |
CEP290 |
centrosomal protein 290 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
|
|
G |
CEP41 |
centrosomal protein 41 |
|
IAGP |
|
HPO |
|
MIM:614464 |
NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
|
|
G |
CEP57 |
centrosomal protein 57 |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
|
|
G |
CILK1 |
ciliogenesis associated kinase 1 |
|
IAGP |
|
HPO |
|
MIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
|
|
G |
CKAP2L |
cytoskeleton associated protein 2 like |
|
IAGP |
|
HPO |
|
MIM:272440 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
CRIPTO |
cripto, EGF-CFC family member |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
|
|
G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
|
|
G |
CTU2 |
cytosolic thiouridylase subunit 2 |
|
IAGP |
|
HPO |
|
MIM:618142 |
NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
MIM:250790 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90795 |
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
MIM:202110 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:270400 ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
DISP1 |
dispatched RND transporter family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
|
|
G |
DLL1 |
delta like canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
|
|
G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
|
IAGP |
|
HPO |
|
MIM:613091 ORPHA:93271 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
|
|
G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
|
IAGP |
|
HPO |
|
MIM:615503 ORPHA:93271 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
|
|
G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
|
|
G |
FDXR |
ferredoxin reductase |
|
IAGP |
|
HPO |
|
ORPHA:543470 |
NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FLNA |
filamin A |
|
IAGP |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:25741868 |
|
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
FOXH1 |
forkhead box H1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
|
|
G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
IAGP |
ClinVar Annotator: match by term: Ambiguous genitalia |
HPO ClinVar |
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 |
MIM:617666 ORPHA:2052 |
NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
|
|
G |
FSHR |
follicle stimulating hormone receptor |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
|
|
G |
FUZ |
fuzzy planar cell polarity protein |
|
IAGP |
|
HPO |
|
ORPHA:3027 |
NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
GAS1 |
growth arrest specific 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:615542 ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
GLI3 |
GLI family zinc finger 3 |
|
IAGP |
|
HPO |
|
ORPHA:672 ORPHA:93322 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
|
|
G |
GRIP1 |
glutamate receptor interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
HOXD13 |
homeobox D13 |
|
IAGP |
|
HPO |
|
ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
|
|
G |
HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
|
IAGP |
|
HPO |
|
ORPHA:752 |
NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
IFT80 |
intraflagellar transport 80 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
|
|
G |
IFT81 |
intraflagellar transport 81 |
|
IAGP |
|
HPO |
|
MIM:617895 |
NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
MIM:616489 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:1300 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
MAGEL2 |
MAGE family member L2 |
|
IAGP |
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 chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
MRPS22 |
mitochondrial ribosomal protein S22 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
|
|
G |
MSH4 |
mutS homolog 4 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
|
|
G |
MYRF |
myelin regulatory factor |
|
IAGP |
|
HPO |
|
MIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
NEK1 |
NIMA related kinase 1 |
|
IAGP |
|
HPO |
|
MIM:263520 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
|
|
G |
NODAL |
nodal growth differentiation factor |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 ORPHA:393 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
|
|
G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
|
IAGP |
|
HPO |
|
MIM:618901 |
NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
|
|
G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
|
IAGP |
|
HPO |
|
ORPHA:786 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
MIM:612965 MIM:617480 ORPHA:2138 ORPHA:243 ORPHA:251510 ORPHA:393 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
NUP107 |
nucleoporin 107 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
|
|
G |
PAX6 |
paired box 6 |
|
IAGP |
|
HPO |
|
ORPHA:893 |
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
|
|
G |
PBX1 |
PBX homeobox 1 |
|
IAGP |
|
HPO |
|
MIM:617641 |
NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
|
|
G |
POLR3H |
RNA polymerase III subunit H |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar HPO |
PMID:25741868 |
MIM:201750 MIM:613571 ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PSMC3IP |
PSMC3 interacting protein |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
MIM:263650 ORPHA:1234 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
|
|
G |
RPGRIP1 |
RPGR interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
|
|
G |
RPGRIP1L |
RPGRIP1 like |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
|
|
G |
RSPO1 |
R-spondin 1 |
|
IAGP |
|
HPO |
|
MIM:610644 |
NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SOX3 |
SRY-box transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:393 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
MIM:616425 ORPHA:140 ORPHA:2138 ORPHA:251510 ORPHA:393 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SPIDR |
scaffold protein involved in DNA repair |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
IAGP |
|
HPO |
|
ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
MIM:400044 ORPHA:1772 ORPHA:2138 ORPHA:251510 ORPHA:393 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
SUFU |
SUFU negative regulator of hedgehog signaling |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
IAGP |
|
HPO |
|
ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
|
|
G |
TCTN1 |
tectonic family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
|
|
G |
TCTN2 |
tectonic family member 2 |
|
IAGP |
|
HPO |
|
MIM:613885 ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TGIF1 |
TGFB induced factor homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
|
|
G |
TMEM107 |
transmembrane protein 107 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
|
|
G |
TMEM231 |
transmembrane protein 231 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
|
|
G |
TMEM237 |
transmembrane protein 237 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
|
|
G |
TMEM67 |
transmembrane protein 67 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
MIM:614969 ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
G |
TRAIP |
TRAF interacting protein |
|
IAGP |
|
HPO |
|
MIM:616777 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
|
|
G |
TRIP13 |
thyroid hormone receptor interactor 13 |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
|
|
G |
TSPYL1 |
TSPY like 1 |
|
IAGP |
|
HPO |
|
ORPHA:168593 |
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
|
|
G |
TWIST2 |
twist family bHLH transcription factor 2 |
|
IAGP |
|
HPO |
|
MIM:200110 ORPHA:920 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
|
|
G |
TXNDC15 |
thioredoxin domain containing 15 |
|
IAGP |
|
HPO |
|
MIM:619879 ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
|
|
G |
VANGL1 |
VANGL planar cell polarity protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:3027 |
NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
|
|
G |
WDR35 |
WD repeat domain 35 |
|
IAGP |
|
HPO |
|
ORPHA:93271 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar HPO |
|
ORPHA:251510 ORPHA:3097 ORPHA:893 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
IAGP |
|
HPO |
|
MIM:616067 ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
|
|
G |
ZIC2 |
Zic family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
|
|
G |
ZMYM3 |
zinc finger MYM-type containing 3 |
|
IAGP |
|
HPO |
|
MIM:301111 |
NCBI chr X:71,239,624...71,255,290
Ensembl chr X:71,239,624...71,255,146
|
|
G |
ZNF699 |
zinc finger protein 699 |
|
IAGP |
|
HPO |
|
MIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
|
|
G |
ZSWIM7 |
zinc finger SWIM-type containing 7 |
|
IAGP |
|
HPO |
|
ORPHA:243 |
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
|
|
|
G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
|
IAGP |
|
HPO |
|
MIM:202010 ORPHA:90795 |
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
|
|
G |
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:91 |
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:602398 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:249000 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TBX15 |
T-box transcription factor 15 |
|
IAGP |
|
HPO |
|
MIM:260660 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
|
|
G |
TNXB |
tenascin XB |
|
IAGP |
|
HPO |
|
MIM:606408 |
NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
MIM:194080 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:602398 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:249000 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
SC5D |
sterol-C5-desaturase |
|
IAGP |
|
HPO |
|
MIM:607330 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
IAGP |
|
HPO |
|
MIM:264600 ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TBX15 |
T-box transcription factor 15 |
|
IAGP |
|
HPO |
|
MIM:260660 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
|
|
G |
TSPYL1 |
TSPY like 1 |
|
IAGP |
|
HPO |
|
MIM:608800 |
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
MIM:194080 ORPHA:347 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
WRN |
WRN RecQ like helicase |
|
IAGP |
|
HPO |
|
ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
|
|
|
G |
HLA-B |
major histocompatibility complex, class I, B |
|
IAGP |
|
HPO |
|
ORPHA:29207 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
|
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
MIM:312300 ORPHA:90797 ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
MIM:257300 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
MIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
CYB5A |
cytochrome b5 type A |
|
IAGP |
|
HPO |
|
MIM:250790 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
|
IAGP |
|
HPO |
|
ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
MIM:270400 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
IAGP |
|
HPO |
|
MIM:615546 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:123790 ORPHA:1555 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
HOXA13 |
homeobox A13 |
|
IAGP |
|
HPO |
|
MIM:140000 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
|
|
G |
HOXD13 |
homeobox D13 |
|
IAGP |
|
HPO |
|
ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
MIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
MIM:119500 ORPHA:1300 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
KIFBP |
kinesin family binding protein |
|
IAGP |
|
HPO |
|
ORPHA:66629 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
|
|
G |
MAMLD1 |
mastermind like domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 ORPHA:95706 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
|
|
G |
MID1 |
midline 1 |
|
IAGP |
|
HPO |
|
ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
|
|
G |
MTM1 |
myotubularin 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 |
NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143
|
|
G |
MYRF |
myelin regulatory factor |
|
IAGP |
|
HPO |
|
MIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:2138 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
MIM:201750 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
SALL1 |
spalt like transcription factor 1 |
|
IAGP |
|
HPO |
|
MIM:107480 ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
|
|
G |
SEMA3E |
semaphorin 3E |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
MIM:278850 MIM:616425 ORPHA:2138 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
|
IAGP |
|
HPO |
|
MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
IAGP |
|
HPO |
|
MIM:264600 ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 ORPHA:2138 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
UPB1 |
beta-ureidopropionase 1 |
|
IAGP |
|
HPO |
|
MIM:613161 |
NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
MIM:235730 ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
|
G |
ABCC8 |
ATP binding cassette subfamily C member 8 |
|
IAGP |
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 chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
|
|
G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
|
HPO |
|
MIM:613451 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
|
|
G |
AMH |
anti-Mullerian hormone |
|
IAGP |
|
HPO |
|
MIM:261550 |
NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
|
|
G |
AMHR2 |
anti-Mullerian hormone receptor type 2 |
|
IAGP |
|
HPO |
|
MIM:261550 |
NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
ORPHA:90797 ORPHA:99429 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
|
IAGP |
|
HPO |
|
MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
MIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
|
IAGP |
|
HPO |
|
ORPHA:434179 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:90793 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
|
|
G |
DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
|
IAGP |
|
HPO |
|
ORPHA:66634 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
IAGP |
|
HPO |
|
MIM:278800 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
|
|
G |
FAM149B1 |
family with sequence similarity 149 member B1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
|
|
G |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
ORPHA:466722 |
NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
|
|
G |
FDFT1 |
farnesyl-diphosphate farnesyltransferase 1 |
|
IAGP |
|
HPO |
|
MIM:618156 |
NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395
|
|
G |
FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
|
IAGP |
|
HPO |
|
MIM:305400 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
|
|
G |
GTF2H5 |
general transcription factor IIH subunit 5 |
|
IAGP |
|
HPO |
|
MIM:616395 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
|
|
G |
IFT172 |
intraflagellar transport 172 |
|
IAGP |
|
HPO |
|
MIM:619471 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
|
|
G |
IGBP1 |
immunoglobulin binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:300472 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
|
|
G |
INSL3 |
insulin like 3 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr19:17,816,512...17,821,519
Ensembl chr19:17,816,512...17,821,574
|
|
G |
KAT6A |
lysine acetyltransferase 6A |
|
IAGP |
|
HPO |
|
MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
|
|
G |
KIAA0753 |
KIAA0753 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KISS1R |
KISS1 receptor |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 |
|
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
|
|
G |
KLHL15 |
kelch like family member 15 |
|
IAGP |
|
HPO |
|
MIM:300982 |
NCBI chr X:23,983,720...24,027,186
Ensembl chr X:23,983,716...24,027,186
|
|
G |
LSS |
lanosterol synthase |
|
IAGP |
|
HPO |
|
MIM:618840 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
|
|
G |
MASP1 |
MBL associated serine protease 1 |
|
IAGP |
|
HPO |
|
ORPHA:293843 |
NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
|
|
G |
MCM5 |
minichromosome maintenance complex component 5 |
|
IAGP |
|
HPO |
|
MIM:617564 |
NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,134...35,425,431
|
|
G |
MEGF8 |
multiple EGF like domains 8 |
|
IAGP |
|
HPO |
|
MIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
|
|
G |
MRAP |
melanocortin 2 receptor accessory protein |
|
IAGP |
|
HPO |
|
MIM:607398 |
NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784
|
|
G |
NFIX |
nuclear factor I X |
|
IAGP |
|
HPO |
|
MIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
|
|
G |
NONO |
non-POU domain containing octamer binding |
|
IAGP |
|
HPO |
|
ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
|
|
G |
ODC1 |
ornithine decarboxylase 1 |
|
IAGP |
|
HPO |
|
ORPHA:544488 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
|
|
G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
|
|
G |
PAICS |
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
|
IAGP |
|
HPO |
|
MIM:619859 |
NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
|
|
G |
PDE6D |
phosphodiesterase 6D |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
|
|
G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
|
|
G |
POLE |
DNA polymerase epsilon, catalytic subunit |
|
IAGP |
|
HPO |
|
MIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
|
|
G |
POLR1A |
RNA polymerase I subunit A |
|
IAGP |
|
HPO |
|
MIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
|
|
G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
MIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
|
|
G |
RPL10 |
ribosomal protein L10 |
|
IAGP |
|
HPO |
|
MIM:300998 |
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
|
|
G |
RXFP2 |
relaxin family peptide receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:31,739,526...31,803,389
Ensembl chr13:31,739,526...31,803,389
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
|
HPO |
|
MIM:619542 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
|
|
G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
|
IAGP |
|
HPO |
|
MIM:242900 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
|
|
G |
TMEM231 |
transmembrane protein 231 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
|
|
G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
MIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
VPS50 |
VPS50 subunit of EARP/GARPII complex |
|
IAGP |
|
HPO |
|
MIM:619685 |
NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123
|
|
G |
WDR37 |
WD repeat domain 37 |
|
IAGP |
|
HPO |
|
MIM:618652 |
NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991
|
|
G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
|
IAGP |
|
HPO |
|
MIM:259050 ORPHA:3042 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
|
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
IAGP |
|
HPO |
|
MIM:615981 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
MIM:618891 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CDC42BPB |
CDC42 binding protein kinase beta |
|
IAGP |
|
HPO |
|
MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IAGP |
|
HPO |
|
ORPHA:268261 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
|
|
G |
EIF4A2 |
eukaryotic translation initiation factor 4A2 |
|
IAGP |
|
HPO |
|
MIM:620455 |
NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
HOXA13 |
homeobox A13 |
|
IAGP |
|
HPO |
|
MIM:140000 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
|
|
G |
KDM1A |
lysine demethylase 1A |
|
IAGP |
|
HPO |
|
MIM:616728 ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
MIM:613762 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MYH3 |
myosin heavy chain 3 |
|
IAGP |
|
HPO |
|
MIM:193700 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
MIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
MIM:201750 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PPP1R12A |
protein phosphatase 1 regulatory subunit 12A |
|
IAGP |
|
HPO |
|
MIM:618820 |
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
|
|
G |
PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
|
IAGP |
|
HPO |
|
MIM:617516 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
RERE |
arginine-glutamic acid dipeptide repeats |
|
IAGP |
|
HPO |
|
MIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
G |
ZMYM2 |
zinc finger MYM-type containing 2 |
|
IAGP |
|
HPO |
|
MIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
|
|
G |
ZNF699 |
zinc finger protein 699 |
|
IAGP |
|
HPO |
|
MIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
|
|
|
G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
IAGP |
|
HPO |
|
MIM:608594 ORPHA:528 |
NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
ORPHA:90797 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ARID1B |
AT-rich interaction domain 1B |
|
IAGP |
|
HPO |
|
MIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
|
|
G |
ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
|
IAGP |
|
HPO |
|
MIM:608688 ORPHA:250977 |
NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
|
|
G |
ATR |
ATR serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:210600 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
|
|
G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
IAGP |
|
HPO |
|
MIM:269700 ORPHA:528 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
|
|
G |
CAV1 |
caveolin 1 |
|
IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
|
|
G |
CAVIN1 |
caveolae associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
|
|
G |
CCNQ |
cyclin Q |
|
IAGP |
|
HPO |
|
MIM:300707 ORPHA:140952 |
NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045
|
|
G |
CD96 |
CD96 molecule |
|
IAGP |
|
HPO |
|
MIM:211750 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
MIM:617063 ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CEP152 |
centrosomal protein 152 |
|
IAGP |
|
HPO |
|
MIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
MIM:309801 ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:168558 ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
|
|
G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
|
IAGP |
|
HPO |
|
MIM:202010 ORPHA:90795 |
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
|
|
G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
IAGP |
|
HPO |
|
MIM:268300 ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
|
|
G |
FDXR |
ferredoxin reductase |
|
IAGP |
|
HPO |
|
ORPHA:543470 |
NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:614592 ORPHA:313855 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
|
|
G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:219000 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
|
|
G |
GAD1 |
glutamate decarboxylase 1 |
|
IAGP |
|
HPO |
|
MIM:619124 |
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
MIM:309801 ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
|
HPO |
|
ORPHA:90791 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
|
|
G |
INSR |
insulin receptor |
|
IAGP |
|
HPO |
|
MIM:246200 MIM:262190 ORPHA:508 ORPHA:769 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
|
HPO |
|
MIM:606170 ORPHA:85201 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
IAGP |
|
HPO |
|
MIM:613762 ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
|
|
G |
MED25 |
mediator complex subunit 25 |
|
IAGP |
|
HPO |
|
MIM:616449 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
MIM:309801 ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
IAGP |
|
HPO |
|
MIM:612964 MIM:612965 MIM:617480 ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:224690 ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
MIM:613800 ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
MIM:613803 ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
IAGP |
|
HPO |
|
MIM:214100 ORPHA:912 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
|
|
G |
PEX10 |
peroxisomal biogenesis factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
|
|
G |
PEX11B |
peroxisomal biogenesis factor 11 beta |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
|
|
G |
PEX12 |
peroxisomal biogenesis factor 12 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
|
|
G |
PEX13 |
peroxisomal biogenesis factor 13 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
|
|
G |
PEX16 |
peroxisomal biogenesis factor 16 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
|
|
G |
PEX19 |
peroxisomal biogenesis factor 19 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
|
|
G |
PEX2 |
peroxisomal biogenesis factor 2 |
|
IAGP |
|
HPO |
|
MIM:614866 ORPHA:912 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
|
|
G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
|
|
G |
PEX3 |
peroxisomal biogenesis factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
IAGP |
|
HPO |
|
MIM:214110 ORPHA:912 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
MIM:201750 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PPARG |
peroxisome proliferator activated receptor gamma |
|
IAGP |
|
HPO |
|
ORPHA:528 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
|
|
G |
PPP1R12A |
protein phosphatase 1 regulatory subunit 12A |
|
IAGP |
|
HPO |
|
MIM:618820 |
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
|
|
G |
RSPO1 |
R-spondin 1 |
|
IAGP |
|
HPO |
|
MIM:610644 |
NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
MIM:400045 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
TALDO1 |
transaldolase 1 |
|
IAGP |
|
HPO |
|
MIM:606003 |
NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
G |
TRAIP |
TRAF interacting protein |
|
IAGP |
|
HPO |
|
MIM:616777 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
|
|
G |
UBE3B |
ubiquitin protein ligase E3B |
|
IAGP |
|
HPO |
|
MIM:244450 ORPHA:2707 |
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
|
|
G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
|
IAGP |
|
HPO |
|
MIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
|
|
G |
VAC14 |
VAC14 component of PIKFYVE complex |
|
IAGP |
|
HPO |
|
ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
|
|
G |
WT1 |
WT1 transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
|
|
|
G |
B3GLCT |
beta 3-glucosyltransferase |
|
IAGP |
|
HPO |
|
MIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
MIM:180700 MIM:616331 ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
MIM:616894 ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
MIM:164745 ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
|
|
G |
IPW |
imprinted in Prader-Willi syndrome |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:25,116,545...25,122,476
|
|
G |
MAGEL2 |
MAGE family member L2 |
|
IAGP |
|
HPO |
|
MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
|
|
G |
MKRN3 |
makorin ring finger protein 3 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
|
|
G |
MKRN3-AS1 |
MKRN3 antisense RNA 1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
|
|
G |
NDN |
necdin, MAGE family member |
|
IAGP |
|
HPO |
|
ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
|
|
G |
NPAP1 |
nuclear pore associated protein 1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
|
|
G |
OCA2 |
OCA2 melanosomal transmembrane protein |
|
IAGP |
|
HPO |
|
ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
POC1A |
POC1 centriolar protein A |
|
IAGP |
|
HPO |
|
MIM:614813 |
NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
|
|
G |
PORCN |
porcupine O-acyltransferase |
|
IAGP |
|
HPO |
|
MIM:305600 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
|
|
G |
PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
|
IAGP |
|
HPO |
|
MIM:618419 |
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
|
|
G |
PWAR1 |
Prader Willi/Angelman region RNA 1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
|
|
G |
PWRN1 |
Prader-Willi region non-protein coding RNA 1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
|
|
G |
RAB18 |
RAB18, member RAS oncogene family |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
|
|
G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
|
IAGP |
|
HPO |
|
MIM:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
|
|
G |
SIM1 |
SIM bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:398079 |
NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
|
|
G |
SNORD115-1 |
small nucleolar RNA, C/D box 115-1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
|
|
G |
SNORD116-1 |
small nucleolar RNA, C/D box 116-1 |
|
IAGP |
|
HPO |
|
MIM:176270 |
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
|
|
G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
|
IAGP |
|
HPO |
|
ORPHA:177901 ORPHA:177904 ORPHA:98754 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
|
|
G |
TBC1D20 |
TBC1 domain family member 20 |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
MIM:180700 ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
|
G |
LYN |
LYN proto-oncogene, Src family tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:620376 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
|
|
|
G |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
|
IAGP |
|
HPO |
|
MIM:300624 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
|
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
MIM:149730 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
NIPBL |
NIPBL cohesin loading factor |
|
IAGP |
|
HPO |
|
MIM:122470 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
|
|
G |
PAICS |
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase |
|
IAGP |
|
HPO |
|
MIM:619859 |
NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
IAGP |
|
HPO |
|
ORPHA:921 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
|
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:615542 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
|
G |
AARS1 |
alanyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
|
|
G |
ABCB7 |
ATP binding cassette subfamily B member 7 |
|
IAGP |
|
HPO |
|
MIM:301310 ORPHA:2802 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
|
|
G |
ABCD4 |
ATP binding cassette subfamily D member 4 |
|
IAGP |
|
HPO |
|
MIM:614857 |
NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
|
|
G |
ACBD6 |
acyl-CoA binding domain containing 6 |
|
IAGP |
|
HPO |
|
MIM:620785 |
NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954
|
|
G |
ACTA2 |
actin alpha 2, smooth muscle |
|
IAGP |
|
HPO |
|
MIM:613834 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
|
|
G |
ACTB |
actin beta |
|
IAGP |
|
HPO |
|
MIM:243310 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
|
|
G |
ACTG2 |
actin gamma 2, smooth muscle |
|
IAGP |
|
HPO |
|
ORPHA:2241 |
NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
|
|
G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
|
IAGP |
|
HPO |
|
MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
|
|
G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
|
IAGP |
|
HPO |
|
ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
|
|
G |
ADNP |
activity dependent neuroprotector homeobox |
|
IAGP |
|
HPO |
|
MIM:615873 ORPHA:404448 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
|
|
G |
AEBP1 |
AE binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:618000 ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
|
|
G |
AFF4 |
ALF transcription elongation factor 4 |
|
IAGP |
|
HPO |
|
MIM:616368 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
|
|
G |
AKR1C2 |
aldo-keto reductase family 1 member C2 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
|
|
G |
AKR1C4 |
aldo-keto reductase family 1 member C4 |
|
IAGP |
|
HPO |
|
MIM:614279 |
NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949
|
|
G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
|
IAGP |
|
HPO |
|
MIM:219150 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
|
|
G |
ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
|
IAGP |
|
HPO |
|
MIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
|
|
G |
ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
|
IAGP |
|
HPO |
|
MIM:607143 ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
|
|
G |
ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
|
IAGP |
|
HPO |
|
MIM:608104 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
|
|
G |
ALK |
ALK receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
ORPHA:626 |
NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
|
|
G |
ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
|
IAGP |
|
HPO |
|
MIM:618504 |
NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742
|
|
G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:228390 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
|
|
G |
AMH |
anti-Mullerian hormone |
|
IAGP |
|
HPO |
|
ORPHA:2856 |
NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073
|
|
G |
AMHR2 |
anti-Mullerian hormone receptor type 2 |
|
IAGP |
|
HPO |
|
ORPHA:2856 |
NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672
|
|
G |
ANAPC1 |
anaphase promoting complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
|
|
G |
ANK1 |
ankyrin 1 |
|
IAGP |
|
HPO |
|
ORPHA:251066 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
|
|
G |
ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
|
IAGP |
|
HPO |
|
MIM:616681 |
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
|
|
G |
ANKRD11 |
ankyrin repeat domain containing 11 |
|
IAGP |
DNA:deletions, SNPs:CDS:multiple |
HPO RGD |
PMID:21782149 |
MIM:148050 ORPHA:2332 ORPHA:261250, RGD:11068938 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
|
|
G |
ANOS1 |
anosmin 1 |
|
IAGP |
|
HPO |
|
MIM:308700 ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
|
|
G |
AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
|
IAGP |
|
HPO |
|
ORPHA:1568 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
|
|
G |
APC2 |
APC regulator of WNT signaling pathway 2 |
|
IAGP |
|
HPO |
|
ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
MIM:312300 ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ARCN1 |
archain 1 |
|
IAGP |
|
HPO |
|
MIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
|
|
G |
ARID1A |
AT-rich interaction domain 1A |
|
IAGP |
|
HPO |
|
MIM:614607 ORPHA:1465 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
|
|
G |
ARID1B |
AT-rich interaction domain 1B |
|
IAGP |
|
HPO |
|
MIM:135900 ORPHA:1465 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
|
|
G |
ARID2 |
AT-rich interaction domain 2 |
|
IAGP |
|
HPO |
|
ORPHA:1465 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
|
|
G |
ARL6 |
ARF like GTPase 6 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
|
|
G |
ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
IAGP |
|
HPO |
|
MIM:615926 ORPHA:3157 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
|
|
G |
ARVCF |
ARVCF delta catenin family member |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
|
|
G |
ARX |
aristaless related homeobox |
|
IAGP |
|
HPO |
|
MIM:300004 ORPHA:452 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
|
|
G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
|
|
G |
ASXL3 |
ASXL transcriptional regulator 3 |
|
IAGP |
|
HPO |
|
MIM:615485 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
|
|
G |
ATAD3A |
ATPase family AAA domain containing 3A |
|
IAGP |
|
HPO |
|
ORPHA:496790 |
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
|
|
G |
ATN1 |
atrophin 1 |
|
IAGP |
|
HPO |
|
MIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
|
|
G |
ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
|
IAGP |
|
HPO |
|
MIM:278250 ORPHA:2834 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
|
IAGP |
|
HPO |
|
MIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
MIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
ATR |
ATR serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:210600 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
HPO ClinVar |
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
|
MIM:301040 MIM:309580 ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
|
|
G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
|
IAGP |
|
HPO |
|
ORPHA:352490 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
|
|
G |
AXL |
AXL receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
MIM:146110 |
NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
|
|
G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
|
|
G |
B3GLCT |
beta 3-glucosyltransferase |
|
IAGP |
|
HPO |
|
MIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
|
|
G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
|
IAGP |
|
HPO |
|
ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
|
|
G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
|
|
G |
B9D1 |
B9 domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
|
|
G |
B9D2 |
B9 domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
|
|
G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
|
|
G |
BBIP1 |
BBSome interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
|
|
G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
|
|
G |
BBS10 |
Bardet-Biedl syndrome 10 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
|
|
G |
BBS12 |
Bardet-Biedl syndrome 12 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
IAGP |
|
HPO |
|
MIM:615982 ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
|
|
G |
BBS5 |
Bardet-Biedl syndrome 5 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
|
|
G |
BBS7 |
Bardet-Biedl syndrome 7 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
|
|
G |
BBS9 |
Bardet-Biedl syndrome 9 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
MIM:300166 MIM:309800 ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
IAGP |
|
HPO |
|
ORPHA:893 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
|
|
G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
|
IAGP |
|
HPO |
|
MIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
|
|
G |
BIN1 |
bridging integrator 1 |
|
IAGP |
|
HPO |
|
ORPHA:169189 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
|
|
G |
BLM |
BLM RecQ like helicase |
|
IAGP |
|
HPO |
|
MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
MIM:607932 ORPHA:139471 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
MIM:163950 ORPHA:1340 ORPHA:500 ORPHA:626 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:654 ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRD4 |
bromodomain containing 4 |
|
IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
|
|
G |
BRF1 |
BRF1 general transcription factor IIIB subunit |
|
IAGP |
|
HPO |
|
MIM:616202 ORPHA:444072 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
|
|
G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
BRWD3 |
bromodomain and WD repeat domain containing 3 |
|
IAGP |
|
HPO |
|
MIM:300659 |
NCBI chr X:80,669,503...80,809,877
Ensembl chr X:80,669,503...80,809,877
|
|
G |
BTD |
biotinidase |
|
IAGP |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
|
|
NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
MIM:257300 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
|
|
G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
|
IAGP |
|
HPO |
|
MIM:615948 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
|
|
G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
|
IAGP |
|
HPO |
|
MIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
|
|
G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
|
IAGP |
|
HPO |
|
MIM:620316 |
NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CASZ1 |
castor zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
|
|
G |
CBL |
Cbl proto-oncogene |
|
IAGP |
|
HPO |
|
MIM:613563 ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
|
|
G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
|
|
G |
CCBE1 |
collagen and calcium binding EGF domains 1 |
|
IAGP |
|
HPO |
|
MIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
IAGP |
|
HPO |
|
MIM:146110 ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
|
|
G |
CCDC174 |
coiled-coil domain containing 174 |
|
IAGP |
|
HPO |
|
MIM:616816 |
NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659
|
|
G |
CCDC22 |
coiled-coil domain containing 22 |
|
IAGP |
|
HPO |
|
MIM:300963 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
CCDC32 |
coiled-coil domain containing 32 |
|
IAGP |
|
HPO |
|
MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
|
|
G |
CD96 |
CD96 molecule |
|
IAGP |
|
HPO |
|
MIM:211750 ORPHA:1308 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996
|
|
G |
CDC42 |
cell division cycle 42 |
|
IAGP |
|
HPO |
|
MIM:616737 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
|
|
G |
CDC42BPB |
CDC42 binding protein kinase beta |
|
IAGP |
|
HPO |
|
MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
MIM:617063 ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
MIM:613805 ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDCA7 |
cell division cycle associated 7 |
|
IAGP |
|
HPO |
|
MIM:616910 |
NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
|
|
G |
CDH2 |
cadherin 2 |
|
IAGP |
|
HPO |
|
MIM:618929 |
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
|
|
G |
CDK8 |
cyclin dependent kinase 8 |
|
IAGP |
|
HPO |
|
MIM:618748 |
NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
MIM:130650 MIM:614732 ORPHA:397590 ORPHA:85173 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
ORPHA:95496 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
MIM:613804 ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CEP120 |
centrosomal protein 120 |
|
IAGP |
|
HPO |
|
MIM:616300 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
|
|
G |
CEP152 |
centrosomal protein 152 |
|
IAGP |
|
HPO |
|
MIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
|
|
G |
CEP19 |
centrosomal protein 19 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
|
|
G |
CEP290 |
centrosomal protein 290 |
|
IAGP |
|
HPO |
|
ORPHA:110 ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
|
|
G |
CFAP418 |
cilia and flagella associated protein 418 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
IAGP |
|
HPO |
|
MIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
|
|
G |
CHD6 |
chromodomain helicase DNA binding protein 6 |
|
IAGP |
|
HPO |
|
ORPHA:2108 |
NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
MIM:214800 MIM:612370 ORPHA:138 ORPHA:432 ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
CHRM3 |
cholinergic receptor muscarinic 3 |
|
IAGP |
|
HPO |
|
MIM:100100 ORPHA:2970 |
NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452
|
|
G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
|
IAGP |
|
HPO |
|
MIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
|
|
G |
CHST14 |
carbohydrate sulfotransferase 14 |
|
IAGP |
DNA:frameshift mutations, missense mutations:CDS:multiple |
HPO RGD |
PMID:26373698 |
MIM:601776 ORPHA:2953, RGD:11061906 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
|
|
G |
CILK1 |
ciliogenesis associated kinase 1 |
|
IAGP |
|
HPO |
|
MIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
|
|
G |
CITED2 |
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
|
IAGP |
|
HPO |
|
ORPHA:3303 |
NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
|
|
G |
CKAP2L |
cytoskeleton associated protein 2 like |
|
IAGP |
|
HPO |
|
MIM:272440 ORPHA:3255 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
IAGP |
|
HPO |
|
MIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
|
|
G |
CLCN4 |
chloride voltage-gated channel 4 |
|
IAGP |
|
HPO |
|
ORPHA:485350 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
|
|
G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
|
IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
|
|
G |
CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
|
IAGP |
|
HPO |
|
MIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
|
|
G |
COG1 |
component of oligomeric golgi complex 1 |
|
IAGP |
|
HPO |
|
MIM:611209 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
|
|
G |
COG5 |
component of oligomeric golgi complex 5 |
|
IAGP |
|
HPO |
|
ORPHA:263487 |
NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
|
|
G |
COL3A1 |
collagen type III alpha 1 chain |
|
IAGP |
|
HPO |
|
MIM:130050 ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
MIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
MIM:265050 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
COMT |
catechol-O-methyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
|
|
G |
CPE |
carboxypeptidase E |
|
IAGP |
|
HPO |
|
MIM:619326 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
|
|
G |
CPLX1 |
complexin 1 |
|
IAGP |
|
HPO |
|
MIM:194190 ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
MIM:180849 MIM:618332 ORPHA:353277 ORPHA:353281 ORPHA:592574 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
|
|
G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
|
|
G |
CTBP1 |
C-terminal binding protein 1 |
|
IAGP |
|
HPO |
|
MIM:194190 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
|
|
G |
CTCF |
CCCTC-binding factor |
|
IAGP |
|
HPO |
|
MIM:615502 ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
|
|
G |
CUL4B |
cullin 4B |
|
IAGP |
|
HPO |
|
MIM:300354 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
|
|
G |
CWC27 |
CWC27 spliceosome associated cyclophilin |
|
IAGP |
|
HPO |
|
| |