RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: disorder of sexual development
Accession: DOID:1923
browse the term
Definition: A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. (DO)
Synonyms: exact_synonym: Disorders of Sex Development; Genital Ambiguity; Intersex Condition; Intersexualities; Intersexuality; Sex Differentiation Disorder; ambiguous genitalia; disorder of sexual differentiation; disorders of sexual development; genital ambiguities; intersex conditions; sex development disorder; sex development disorders; sex differentiation disease; sex differentiation disorders; sexual development disorder; sexual development disorders; sexual differentiation disorder; sexual differentiation disorders
primary_id: MESH:D012734
xref: NCI:C103186
For additional species annotation, visit the
Alliance of Genome Resources .
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25304492
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1c2
aldo-keto reductase family 1, member C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25304492
NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25304492
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Amh
anti-Mullerian hormone
susceptibility
ISO
Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon
RGD
PMID:1483695
RGD:1601180
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cbx2
chromobox 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar RGD
PMID:9641679
RGD:9586734
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Ccdc141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Dhh
desert hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532 PMID:30675029 PMID:34858435 PMID:36110220
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Flrt3
fibronectin leucine rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Gprc6a
G protein-coupled receptor, class C, group 6, member A
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:17071532 PMID:8075637
RGD:1599964
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Kiss1
KiSS-1 metastasis-suppressor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22615892
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Macrod2
mono-ADP ribosylhydrolase 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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Magel2
MAGE family member L2
ISO
ClinVar Annotator: match by term: Ambiguous genitalia
ClinVar
PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 PMID:30302899 PMID:31152388 PMID:31680349 More...
NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
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Map3k1
mitogen-activated protein kinase kinase kinase 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:28492532
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Prop1
PROP paired-like homeobox 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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Rxfp2
relaxin family peptide receptor 2
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
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Sox4
SRY-box transcription factor 4
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Spry4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Wwox
WW domain-containing oxidoreductase
ISO
ClinVar Annotator: match by term: Disorder of sexual differentiation
ClinVar
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:3263289 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:25741905 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID:32784047 PMID:33753170 PMID:33819959 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis
ClinVar
PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO ISS
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM:264300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27307783 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28617986 PMID:28739554 PMID:29397602 PMID:30668521 PMID:31614207 PMID:32297288 PMID:32372306 PMID:33516834 PMID:33984517 PMID:34009138 PMID:36110220 PMID:36154887 PMID:36606580 More...
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Colec11
collectin sub-family member 11
ISO
ClinVar Annotator: match by term: 3MC syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Fancl
FA complementation group L
ISS
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324
MouseDO
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Fshr
follicle stimulating hormone receptor
ISO
DNA:point mutation:exon:A189V ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:7553856
RGD:1601232
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246354
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Tyro3
TYRO3 protein tyrosine kinase
ISO
ClinVar Annotator: match by term: 46,XX disorder of sex development
ClinVar
NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
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Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
ClinVar Annotator: match by term: Male pseudohermaphroditism
ClinVar
PMID:25741868
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY disorder of sex development
CTD ClinVar
PMID:7719343 PMID:19887492
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: DSD incomplete virilization
ClinVar
PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Nr2f2
nuclear receptor subfamily 2, group F, member 2
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY disorder of sex development
CTD ClinVar
PMID:17694559 PMID:20887963 PMID:25741868 PMID:27899157 PMID:28492532
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Sox8
SRY-box transcription factor 8
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
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Srcap
Snf2-related CREBBP activator protein
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
PMID:28492532
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Sry
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY disorder of sex development
ClinVar
PMID:8353496 PMID:25741868 PMID:29378242
NCBI chr Y:441,525...442,037
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Sry
sex determining region Y
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XX sex reversal 1
OMIM CTD ClinVar
PMID:25741868
NCBI chr Y:441,525...442,037
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Sox9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 2
ClinVar
PMID:21208124 PMID:22051515
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 4
OMIM ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr2f2
nuclear receptor subfamily 2, group F, member 2
ISO
ClinVar Annotator: match by term: 46,xx sex reversal 5
OMIM ClinVar
PMID:25741868 PMID:27363585 PMID:29478779
NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: SERKAL syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18179883 PMID:25741868
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Dhh
desert hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM CTD ClinVar
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868 PMID:33189935
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Dhh
desert hedgehog signaling molecule
susceptibility
ISO ISS
DNA:missense mutation:exon OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067 ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
MouseDO ClinVar RGD
PMID:11017805
RGD:1601053
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10369247 PMID:11932325 PMID:15070943
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Sry
sex determining region Y
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27576690 PMID:2247151 PMID:8257986
RGD:1599179 , RGD:1598780
NCBI chr Y:441,525...442,037
G
Sry
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7717397 PMID:7718558 PMID:7981695 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10670762 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:12919143 PMID:16510537 PMID:16675314 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 More...
NCBI chr Y:441,525...442,037
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Sox9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 10
ClinVar
PMID:6620326 PMID:22051515 PMID:25604083
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 More...
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Gata4
GATA binding protein 4
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar
PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:22011241 PMID:24033266 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27899157 PMID:28492532 PMID:29368431 PMID:32992319 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
OMIM ClinVar
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:32738419 PMID:33202802 PMID:33351340 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:27899157 PMID:28492532 PMID:31962012 More...
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 4
ClinVar
PMID:25741868
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Cbx2
chromobox 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 5
OMIM CTD ClinVar
PMID:19361780 PMID:25741868
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Map3k1
mitogen-activated protein kinase kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6
OMIM CTD ClinVar
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 PMID:24135036 PMID:24497709 PMID:25326637 PMID:25383892 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28504475 PMID:30608580 PMID:30872814 PMID:32985417 More...
NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Dhh
desert hedgehog signaling molecule
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
OMIM CTD ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Akr1c2
aldo-keto reductase family 1, member C2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 8
OMIM CTD ClinVar
PMID:4352099 PMID:21802064 PMID:25741868
NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25107291 PMID:25741868 PMID:27899157 PMID:28166811 PMID:28492532 PMID:31962012 PMID:34008892 More...
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Sry
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related
ClinVar
PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 PMID:8257986 PMID:9450909 PMID:12793612 More...
NCBI chr Y:441,525...442,037
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8185809 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:12050224 PMID:14966389 PMID:15585552 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 PMID:22579964 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31611844 PMID:31950145 PMID:32506065 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 More...
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:25741913 PMID:28492532 More...
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Ar
androgen receptor
ISO IEP ISS
CTD Direct Evidence: marker/mechanism protein:altered localization:spinal cord, motor neuron, cytoplasm DNA:deletion DNA:point mutation, repeats:exon DNA:missense mutation:exon:p.R615S (human) DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human) DNA:missense mutation:exon:p.M749V (human) OMIM:300068 ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
CTD MouseDO OMIM ClinVar RGD
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1480178 PMID:1487249 PMID:1508223 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1631125 PMID:1720929 PMID:1750490 PMID:1752359 PMID:1775137 PMID:1779964 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7633398 PMID:7641413 PMID:7671849 PMID:7723794 PMID:7795646 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8224266 PMID:8281139 PMID:8325932 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8530589 PMID:8626869 PMID:8628719 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9302173 PMID:9328206 PMID:9332480 PMID:9360511 PMID:9463997 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9554754 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10022458 PMID:10092153 PMID:10221692 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10502786 PMID:10571951 PMID:10589774 PMID:10690872 PMID:10834333 PMID:10840043 PMID:10852459 PMID:10946887 PMID:11103816 PMID:11181525 PMID:11225909 PMID:11260228 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12644579 PMID:12705360 PMID:12843171 PMID:13680382 PMID:14701682 PMID:14974091 PMID:15109605 PMID:15266301 PMID:15531547 PMID:15541764 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16199547 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:16470553 PMID:16804045 PMID:17161333 PMID:17382127 PMID:17576681 PMID:17937062 PMID:17970778 PMID:18406699 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20056211 PMID:20150575 PMID:20305676 PMID:20493947 PMID:20671138 PMID:21520333 PMID:21645389 PMID:21710452 PMID:21962961 PMID:22334387 PMID:22403669 PMID:22412043 PMID:22995991 PMID:23106833 PMID:23637914 PMID:23774508 PMID:23779130 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24367986 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25299611 PMID:25326637 PMID:25433660 PMID:25500996 PMID:25613104 PMID:25640679 PMID:25674389 PMID:25740850 PMID:25741868 PMID:25741909 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27051040 PMID:27267075 PMID:27284311 PMID:27403927 PMID:27583472 PMID:27849622 PMID:27854360 PMID:27899157 PMID:27989800 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:28743543 PMID:28857053 PMID:28879700 PMID:28947719 PMID:29051026 PMID:29237170 PMID:29758562 PMID:29785970 PMID:30064134 PMID:30113450 PMID:30165367 PMID:30316867 PMID:30401990 PMID:30599484 PMID:30668521 PMID:30815925 PMID:31012339 PMID:31180159 PMID:31219235 PMID:31373714 PMID:31429517 PMID:31499074 PMID:31871297 PMID:32229106 PMID:32345305 PMID:32985417 PMID:33505695 PMID:33514065 PMID:33548461 PMID:33728612 PMID:33750429 PMID:33819955 PMID:33863387 PMID:34152287 PMID:34276780 PMID:34333495 PMID:34689141 PMID:35561789 PMID:36572623 PMID:7643075 PMID:3186717 PMID:7970939 PMID:20888558 PMID:1424203 PMID:8325950 PMID:1487249 More...
RGD:11571622 , RGD:11571627 , RGD:11571628 , RGD:11576232 , RGD:11576233 , RGD:11576235 , RGD:11576240
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Fkbp4
FKBP prolyl isomerase 4
ISS
OMIM:300068
MouseDO
NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
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Kat7
lysine acetyltransferase 7
ISO
protein:decreased expression:testes (human)
RGD
PMID:23707616
RGD:9681005
NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency
ClinVar
PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 PMID:22403669 PMID:22412043 PMID:23637914 PMID:25299611 PMID:25326637 PMID:25500996 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:27899157 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:30599484 PMID:31871297 PMID:36572623 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Dhx37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC
OMIM ClinVar
PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883
NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Congenital absence of testes
ClinVar
PMID:25741868
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Gynecomastia, familial
ClinVar
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO ISS
OMIM:139300 ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:21521281 PMID:23329769 PMID:25088806 PMID:25301327 PMID:25415177 PMID:25741868 PMID:26822949 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 PMID:29324451 PMID:30968679 PMID:33108086 More...
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Fbln1
fibulin 1
ISO
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects
ClinVar
PMID:24084572
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Sox9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal
ClinVar
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Hhat
hedgehog acyltransferase
ISO ISS
OMIM:600092 ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia
OMIM MouseDO ClinVar
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300
NCBI chr13:104,024,507...104,283,580
Ensembl chr13:104,010,916...104,282,893
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 PMID:31161946 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25451826 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 PMID:36349777 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Avpr1a
arginine vasopressin receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
DNA:splice-site mutation
RGD
PMID:12161514
RGD:1599693
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD
PMID:8964882 PMID:1430088
RGD:1600799 , RGD:734864
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 PMID:9546661 PMID:11095433 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16199547 PMID:16670167 PMID:17371482 PMID:17576681 PMID:19204079 PMID:19844114 PMID:20089618 PMID:22333028 PMID:22964742 PMID:23940125 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26806323 PMID:26956189 PMID:27316665 PMID:28228528 PMID:28492532 PMID:28514642 PMID:29626607 PMID:29858860 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11549685 PMID:12466376 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:18645707 PMID:19454579 PMID:19636199 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24498484 PMID:25741868 PMID:25741905 PMID:26543560 PMID:27426448 PMID:28008861 PMID:28492532 PMID:29595516 PMID:31636948 PMID:33516834 PMID:33864926 PMID:34524979 PMID:34829455 PMID:35729303 PMID:35990289 PMID:2026124 More...
RGD:4889141
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp21a1
cytochrome P450, family 21, subfamily a, polypeptide 1
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:12930931
RGD:4889127
NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD ClinVar
PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8316254 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050213 PMID:12050224 PMID:15585552 PMID:18252794 PMID:21340167 PMID:22579964 PMID:24033266 PMID:25211449 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28207417 PMID:28492532 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31950145 PMID:34055358 PMID:34628416 More...
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Htr4
5-hydroxytryptamine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218722
NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18272904
NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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Por
cytochrome p450 oxidoreductase
ISO
DNA:missense mutations:cds:p.A287P, p.H628P (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:31888681 PMID:33864926 PMID:34009138 PMID:17505056 More...
RGD:4889128
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15521956
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Ren
renin
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31505456
RGD:125097501
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Star
steroidogenic acute regulatory protein
susceptibility
ISO ISS
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar MouseDO RGD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:8634702 PMID:9326645 More...
RGD:1600070 , RGD:4145592
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
ClinVar
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:25741914 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:14682466 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17124386 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18204274 PMID:18663314 PMID:19204079 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:20331679 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27316665 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:28962970 PMID:29626607 PMID:29858860 PMID:29909741 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: CYP21 deficiency
ClinVar
PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 PMID:25741905 PMID:27426448 PMID:28492532 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:25741868
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum
RGD
PMID:21636299
RGD:12910854
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 PMID:28492532 PMID:33666875 More...
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tnxb
tenascin XB
ISO
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:25741914 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32838438 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33604243 PMID:33710594 PMID:33715135 PMID:34540367 PMID:37011374 More...
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
OMIM CTD ClinVar
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8245018 PMID:8287576 PMID:8345056 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9888582 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16483711 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17285537 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21550081 PMID:21822006 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:24593890 PMID:25697092 PMID:25741868 PMID:25741905 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30002216 PMID:30229581 PMID:31636948 PMID:32215889 PMID:32561571 PMID:32784047 PMID:32985417 PMID:33516834 PMID:33753170 PMID:33780934 PMID:33864926 PMID:34097983 PMID:34524979 PMID:34724156 PMID:34829455 PMID:35043964 PMID:35561789 PMID:35729303 PMID:35990289 More...
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12858176
RGD:1625067
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:12858176
RGD:1625067
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 1
OMIM ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16356929 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO ISS
OMIM:614662 ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM MouseDO ClinVar
PMID:21325058 PMID:25741868
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Adamts16
ADAM metallopeptidase with thrombospondin type 1 motif, 16
IMP
RGD
PMID:32037220 PMID:24983376
RGD:38548917 , RGD:13434925
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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Adamts16em1Bj
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj
IMP
RGD
PMID:24983376 PMID:32037220
RGD:13434925 , RGD:38548917
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Anxa5
annexin A5
IEP
protein:increased expression: seminiferous tubulle
RGD
PMID:19376566
RGD:10053693
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Ar
androgen receptor
ISO
DNA:repeats:exon
RGD
PMID:15472213 PMID:15757859
RGD:1578685 , RGD:11576231
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: undescended testicle
CTD ClinVar
PMID:7697714 PMID:19291773 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26050606
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Btd
biotinidase
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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Casp3
caspase 3
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26050606 PMID:29606031
RGD:13792609
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Cbl
Cbl proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694012
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cftr
CF transmembrane conductance regulator
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Chrm3
cholinergic receptor, muscarinic 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077972
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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Esr1
estrogen receptor 1
IEP
mRNA:decreased expression:testis
RGD
PMID:20951417
RGD:8553220
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Fas
Fas cell surface death receptor
IEP
RGD
PMID:29606031
RGD:13792609
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Gfer
growth factor, augmenter of liver regeneration
IEP
protein:decreased expression:male germ cell:
RGD
PMID:17918708
RGD:9685739
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26050606
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Hoxd13
homeo box D13
ISO
DNA:splice-site mutation:exon:180A>G (human)
RGD
PMID:17216618
RGD:12743597
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26050606
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Hsf1
heat shock transcription factor 1
IEP
protein:increased expression:testis, spermatocyte, nucleus (rat)
RGD
PMID:21480429
RGD:10402945
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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Htra2
HtrA serine peptidase 2
IEP
RGD
PMID:16563141
RGD:10402928
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:decreased expression:testis (rat)
RGD
PMID:7473418
RGD:12904727
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Insl3
insulin-like 3
ISO ISS
idiopathic cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD OMIM RGD
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 PMID:16102138 PMID:25741868 PMID:12601553 More...
RGD:1600162
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Kdm5a
lysine demethylase 5A
IEP
mRNA:increased expression:testes (rat)
RGD
PMID:24679876
RGD:9588526
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:15598687 PMID:28492532 PMID:29452377
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Lsm1
LSM1 homolog, mRNA degradation associated
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868 PMID:31010896
NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:21290976 PMID:21600797 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23325590 PMID:23334425 PMID:23867542 PMID:23907647 PMID:24117178 PMID:24318677 PMID:24369413 PMID:25203624 PMID:25741868 PMID:26247045 PMID:26554556 PMID:26620106 PMID:27030597 PMID:27838405 PMID:28421071 PMID:28492532 PMID:29178647 PMID:29260407 PMID:29599418 PMID:29927949 PMID:30171907 PMID:31411330 PMID:33223529 More...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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Msx1
msh homeobox 1
IEP
RGD
PMID:18222913
RGD:5132606
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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Nfkbia
NFKB inhibitor alpha
ISO
protein:decreased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Ngf
nerve growth factor
IEP
mRNA,protein:decreased expression:testis
RGD
PMID:22490502
RGD:402463952
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nipbl
NIPBL, cohesin loading factor
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868
NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar
PMID:25741868
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:testis
RGD
PMID:22777528
RGD:11567213
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rxfp2
relaxin family peptide receptor 2
ISO
bilateral cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
ClinVar RGD
PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 PMID:12217959
RGD:1600187
NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
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Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868 PMID:28067909
NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Sts
steroid sulfatase
IEP
protein:increased expression:scrotum, testis
RGD
PMID:2576297
RGD:1601402
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Syne2
spectrin repeat containing nuclear envelope protein 2
IAGP
DNA:deletion:exon:
RGD
PMID:26502805
RGD:12911229
NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: undescended testicle
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Cryptorchidism
ClinVar
PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 More...
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Brat1
BRCA1-associated ATM activator 1
ISO
ClinVar Annotator: match by term: DBP deficiency
ClinVar
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532
NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
severity
ISO ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
ClinVar MouseDO CTD OMIM RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25741916 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:9345094 PMID:16385454 More...
RGD:1599968 , RGD:10411884
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Ar
androgen receptor
ISO
protein:decreased expression:sertoli cell
RGD
PMID:16245160
RGD:1643343
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Dcdc1-ps1
doublecortin domain containing 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Drash syndrome
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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Wt1
WT1 transcription factor
ISO ISS
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM:194080 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22876585 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25501161 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:33226606 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:35535697 PMID:36349777 PMID:38054408 PMID:12161615 More...
RGD:1580624
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11792809 PMID:11897440 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15770669 PMID:15965218 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:17150192 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19283854 PMID:19318026 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25741916 PMID:25793944 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27633507 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31521807 PMID:31539150 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31977013 PMID:31983221 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32571898 PMID:32818388 PMID:32880476 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Frasier syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:23117548 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25451826 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 PMID:36349777 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Alx4
ALX homeobox 4
susceptibility
ISO
ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar OMIM
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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Cbx2
chromobox 2
no_association
ISO
RGD
PMID:23219007
RGD:9586730
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Dmrt2
doublesex and mab-3 related transcription factor 2
ISO
ClinVar Annotator: match by term: Gonadal agenesis
ClinVar
PMID:25741868
NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22043169
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
treatment
IMP
RGD
PMID:16467257
RGD:12904919
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Tspyl1
TSPY-like 1
ISO
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800
RGD
PMID:15273283
RGD:1599672
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis
ClinVar
PMID:25741868
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
ClinVar
PMID:25741868 PMID:29625025
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33097490 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35943490 PMID:36194927 PMID:22158539 More...
RGD:12880042
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7878608 PMID:9334596
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Il6st
interleukin 6 cytokine family signal transducer
resistance
ISO
DNA:polymorphism:cds:p148G>R
RGD
PMID:12917504
RGD:1625428
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
mRNA, protein:increased expression:ovary follicle (rat)
RGD
PMID:20813360
RGD:8553031
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Anos1
anosmin 1
ISO
ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia
OMIM ClinVar
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:18259106 PMID:21681106 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23721716 PMID:23849776 PMID:24031091 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28122887 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:29211946 PMID:29758562 PMID:30098700 PMID:31200363 PMID:31602316 PMID:32870266 More...
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Adam9
ADAM metallopeptidase domain 9
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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Adgra2
adhesion G protein-coupled receptor A2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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Adrb3
adrenoceptor beta 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ash2l
ASH2 like histone lysine methyltransferase complex subunit
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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Bag4
BAG cochaperone 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
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Brf2
BRF2, RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
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Ddhd2
DDHD domain containing 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Erlin2
ER lipid raft associated 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2
OMIM ClinVar
PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 PMID:9536098 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15001591 PMID:15365636 PMID:15605412 PMID:15625620 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16470795 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19489874 PMID:19707180 PMID:19820032 PMID:20079901 PMID:20536592 PMID:20696889 PMID:21209029 PMID:21247312 PMID:21700882 PMID:22035731 PMID:22249004 PMID:22319038 PMID:22378383 PMID:23154428 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25077900 PMID:25157968 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25501157 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27170295 PMID:27246988 PMID:27363716 PMID:27502037 PMID:27596331 PMID:27884173 PMID:27884859 PMID:28008864 PMID:28492532 PMID:28754744 PMID:28833369 PMID:28915117 PMID:29168297 PMID:29419413 PMID:30098700 PMID:30143558 PMID:30921766 PMID:31200363 PMID:31475041 PMID:31605817 PMID:31748124 PMID:31837199 PMID:31996231 PMID:32666525 PMID:32724172 PMID:32853167 PMID:33337535 PMID:33442024 PMID:33448156 PMID:33532864 PMID:33548149 PMID:33983622 PMID:34342100 PMID:34348883 PMID:35738466 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Got1l1
glutamic-oxaloacetic transaminase 1-like 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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Htra4
HtrA serine peptidase 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
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Letm2
leucine zipper and EF-hand containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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Lsm1
LSM1 homolog, mRNA degradation associated
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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Nsd3
nuclear receptor binding SET domain protein 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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Plekha2
pleckstrin homology domain containing A2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
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Plpbp
pyridoxal phosphate binding protein
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
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Plpp5
phospholipid phosphatase 5
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24276467 PMID:25741868 PMID:28492532 PMID:33227799 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Rab11fip1
RAB11 family interacting protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
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Star
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tacc1
transforming, acidic coiled-coil containing protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
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Tm2d2
TM2 domain containing 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532
NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3
OMIM ClinVar
PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20502053 PMID:20696889 PMID:20981092 PMID:21209029 PMID:21247312 PMID:21858136 PMID:22035731 PMID:22319038 PMID:22399515 PMID:22466334 PMID:22745195 PMID:22773735 PMID:22927827 PMID:22995991 PMID:23082007 PMID:23200691 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24204987 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25531638 PMID:25636053 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:28858133 PMID:29161432 PMID:30311386 PMID:30430143 PMID:30576231 PMID:30669598 PMID:30773290 PMID:31093944 PMID:31781422 PMID:32400067 PMID:32763379 PMID:32870266 PMID:33227799 PMID:33411215 PMID:33468338 PMID:33587123 PMID:33729509 PMID:34348883 PMID:34539727 PMID:35090434 PMID:35173048 PMID:35669683 PMID:35922219 PMID:36694982 PMID:36843573 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition
OMIM ClinVar
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:20022991 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 PMID:31200363 More...
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Fgfr1
Fibroblast growth factor receptor 1
ISO
DNA:frameshift mutation, missense mutations: :multiple DNA:missense mutations, nonsense mutations:exon:multiple DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
RGD
PMID:16882753 PMID:16764984 PMID:15845591
RGD:11567239 , RGD:11567241 , RGD:11567240
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Pole
DNA polymerase epsilon, catalytic subunit
susceptibility
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
ClinVar OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Nr0b1
nuclear receptor subfamily 0, group B, member 1
ISO
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated
ClinVar
PMID:17164309 PMID:25741868 PMID:28492532
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Anos1
anosmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Chd7
chromodomain helicase DNA binding protein 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD ClinVar
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD ClinVar
PMID:25741868
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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Prok2
prokineticin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Prokr2
prokineticin receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anosmic hypogonadism
CTD ClinVar
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31093944 PMID:32870266 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Sox10
SRY-box transcription factor 10
ISO ISS
DNA:mutations:cds: ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar MouseDO RGD
PMID:23643381
RGD:12832748
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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Sra1
steroid receptor RNA activator 1
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
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Tcf12
transcription factor 12
ISO
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
PMID:25741868 PMID:32629054
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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Wdr11
WD repeat domain 11
ISS
MouseDO
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Kallmann syndrome 5
ClinVar
PMID:9536098 PMID:17576681 PMID:18834967 PMID:22461308 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30311386 PMID:34837038 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Kallmann syndrome 6
ClinVar
PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:28492532 PMID:29584859 More...
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Anos1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Ccdc141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 PMID:22539353 PMID:25472840 PMID:25741868 PMID:28492532 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gnrhr
gonadotropin releasing hormone receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:16968799 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22724017 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:24033266 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30476149 PMID:32870266 PMID:33223529 PMID:33968656 More...
NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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Hs6st1
heparan sulfate 6-O-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Nhlh2
nescient helix loop helix 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868 PMID:35066646
NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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Nlgn3
neuroligin 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 More...
NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Pou6f2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Sema3f
semaphorin 3F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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Spry4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Tacr3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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Wdr11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:20887964 PMID:25741868 PMID:28492532
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9039330 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:9851790 PMID:11041448 PMID:11849253 PMID:12050206 PMID:12679452 PMID:15372531 PMID:15472221 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I
ClinVar
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8943222 PMID:9039330 PMID:9703386 PMID:9851790 PMID:11041448 PMID:12679452 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Leydig cell hypoplasia, type II
ClinVar
PMID:9215288 PMID:9626653 PMID:10852464
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11502818
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Star
steroidogenic acute regulatory protein
ISO
ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism | ClinVar Annotator: match by term: STAR-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11502818 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26014698 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31141483 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 More...
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism
ClinVar
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Aplasia of the uterus
ClinVar
PMID:25741868
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:32378186
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Rokitansky sequence
ClinVar
PMID:25741868
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina
ClinVar
PMID:25741868
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:23295293 PMID:23325811 PMID:23497137 PMID:23515051 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 PMID:38054408 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Cyb5a
cytochrome b5 type A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
OMIM CTD ClinVar
PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
OMIM ClinVar
PMID:25081361 PMID:25741868 PMID:25741916 PMID:26633546 PMID:27480277 PMID:28492532 PMID:31301155 More...
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Wnt4
Wnt family member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
OMIM CTD ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 PMID:25741868 PMID:28492532 More...
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
OMIM ClinVar
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Fshr
follicle stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ovarian dysgenesis 1
OMIM CTD ClinVar
PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11036902 PMID:11213123 PMID:11754099 PMID:11889179 PMID:12571157 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 10
OMIM ClinVar
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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Bmp15
bone morphogenetic protein 15
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4
OMIM CTD ClinVar
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Mlx
MAX dimerization protein MLX
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:31042289
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Nrxn1
neurexin 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:28492532
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Psmc3ip
PSMC3 interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ovarian dysgenesis 3
OMIM CTD ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4
OMIM CTD ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289
NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 5
OMIM ClinVar
PMID:17301727 PMID:25741868 PMID:25774885
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 6
OMIM ClinVar
PMID:25741868 PMID:26485283 PMID:28492532
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Esr2
estrogen receptor 2
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 8
ClinVar OMIM
PMID:30113650
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Spidr
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 9
OMIM ClinVar
PMID:25741868 PMID:27967308 PMID:34697795
NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism
ClinVar
PMID:18085567
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Rspo1
R-spondin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
OMIM CTD ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome
OMIM ClinVar
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 PMID:2594783 PMID:2918059 PMID:7581399 PMID:7671849 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8281139 PMID:8325932 PMID:8446106 PMID:8628719 PMID:8723113 PMID:8823308 PMID:8824883 PMID:9345099 PMID:9543136 PMID:9768671 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10221692 PMID:10485299 PMID:10502786 PMID:10543676 PMID:10946887 PMID:10999818 PMID:11788616 PMID:11788673 PMID:15001585 PMID:15109605 PMID:15925895 PMID:16083860 PMID:16450583 PMID:16804045 PMID:20011049 PMID:23808476 PMID:24321103 PMID:24737579 PMID:25241384 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26778393 PMID:26806084 PMID:27267075 PMID:27583472 PMID:27854360 PMID:28186600 PMID:28261839 PMID:28492532 PMID:28624954 PMID:29237170 PMID:30668521 PMID:32985417 PMID:33750429 PMID:36572623 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISS ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 ClinVar Annotator: match by term: Perrault syndrome
MouseDO ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Eral1
Era-like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:28449065
NCBI chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:517579 PMID:21464306
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26970254 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28708278 PMID:28830375 PMID:31455392 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:27650058 PMID:28492532 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32747562 PMID:32767731 PMID:34997062 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome
ClinVar
PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29458409 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:35035228 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:30311386
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fshr
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25741916 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:34715011
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome 2
OMIM ClinVar
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31449985 PMID:31486067 PMID:31827252 PMID:34416374 More...
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Perrault syndrome 3
OMIM CTD ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:28492532 More...
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome 4
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26657938 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28708303 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome 5
OMIM ClinVar
PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Eral1
Era-like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 6
OMIM ClinVar
PMID:25741868 PMID:28449065
NCBI chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994
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Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 PMID:11760020 PMID:22188863 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28505284 PMID:28528332 PMID:30668521 PMID:30786001 PMID:31277073 PMID:31291191 PMID:32172781 PMID:37004205 More...
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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Amhr2
anti-Mullerian hormone receptor type 2
ISO ISS
ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II OMIM:261550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28528332 PMID:31291191 PMID:32961540 PMID:33025551 More...
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Hsd17b3
hydroxysteroid (17-beta) dehydrogenase 3
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 PMID:9758445 PMID:10599740 PMID:12429500 PMID:16199547 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27899157 PMID:28492532 PMID:30668521 PMID:32297288 More...
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism
ClinVar
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency
ClinVar
PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 More...
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Srd5a2
steroid 5 alpha-reductase 2
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 PMID:1522235 PMID:1944596 PMID:2154055 PMID:2665940 PMID:4028464 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:8784107 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9536098 PMID:9745434 PMID:9843052 PMID:10501358 PMID:10564874 PMID:10718838 PMID:10898110 PMID:10999800 PMID:11869378 PMID:12576851 PMID:12699446 PMID:12843198 PMID:14560315 PMID:14594182 PMID:15064320 PMID:15266301 PMID:15528927 PMID:15770495 PMID:16181229 PMID:16199547 PMID:17576681 PMID:17609295 PMID:18097518 PMID:18314109 PMID:18350250 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:19492581 PMID:20019388 PMID:20179965 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:20850730 PMID:21147889 PMID:21402750 PMID:21540559 PMID:21631525 PMID:21714467 PMID:22272144 PMID:22362597 PMID:22435390 PMID:22453073 PMID:22876553 PMID:23329752 PMID:23633205 PMID:24412121 PMID:24665940 PMID:24737579 PMID:24885102 PMID:25248670 PMID:25266188 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:26761946 PMID:26980298 PMID:27070133 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:28938747 PMID:29582157 PMID:29798939 PMID:30132287 PMID:30668521 PMID:30889611 PMID:30968598 PMID:31031332 PMID:31130284 PMID:31186340 PMID:31219235 PMID:31277073 PMID:31885560 PMID:32346305 PMID:32371413 PMID:32380235 PMID:32567554 PMID:32596280 PMID:32713132 PMID:32894851 PMID:33516834 PMID:33742552 PMID:33775494 PMID:35331321 PMID:35386187 PMID:35700942 PMID:36617173 More...
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
ClinVar
PMID:18384427 PMID:28492532
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8265607
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Zbtb16
zinc finger and BTB domain containing 16
ISO
ClinVar Annotator: match by term: Skeletal defects, genital hypoplasia, and mental retardation
ClinVar
PMID:11891687 PMID:18611983
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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Gata4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease
OMIM CTD ClinVar
PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20854389 PMID:20874241 PMID:21110066 PMID:21220346 PMID:21519287 PMID:21637475 PMID:23138528 PMID:23626780 PMID:23696316 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27139165 PMID:27899157 PMID:28161810 PMID:28471988 PMID:28492532 PMID:29670578 PMID:29735817 PMID:30293987 PMID:30455927 PMID:31513339 PMID:32719394 PMID:32748548 PMID:32901917 PMID:32992319 More...
NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15151564
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Igf1
insulin-like growth factor 1
ISO
protein:decreased activity:serum:
RGD
PMID:17067837
RGD:12743588
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
treatment
ISO
DNA:SNP: :¿¿¿202 A>C(rs2854744)(human)
RGD
PMID:17067837 PMID:22278433
RGD:12743588 , RGD:12743598
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Turner syndrome
ClinVar
PMID:25741868
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP: :rs7975232(human)
RGD
PMID:21823528
RGD:13432073
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD ClinVar
PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 PMID:31161946 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25451826 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 PMID:36349777 PMID:15118671 More...
RGD:1331525
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Hdac8
histone deacetylase 8
ISO
DNA:snp:intron:c.164+5G>A (human)
RGD
PMID:22889856
RGD:13208817
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Las1l
LAS1-like, ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM CTD ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532
NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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Zc3h12b
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wilson-Turner syndrome
ClinVar
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21126
disease of anatomical entity
18216
endocrine system disease
6776
gonadal disease
1213
disorder of sexual development
230
46, XX Disorders of Sex Development +
32
46, XY Disorders of Sex Development +
80
Adrenogenital Syndrome +
26
Campomelic Dysplasia with Autosomal Sex Reversal
1
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
2
Mullerian aplasia and hyperandrogenism
1
Ovotesticular Disorders of Sex Development +
1
Sex Chromosome Disorders of Sex Development +
26
Verloes Gillerot Fryns Syndrome
0
androgen insensitivity syndrome +
5
cryptorchidism +
60
gonadal dysgenesis +
56
gynecomastia +
10
hermaphroditism
0
hyperandrogenism +
6
methemoglobinemia and ambiguous genitalia
1
pseudohermaphroditism +
7
Path 2
disease
21126
Developmental Disease
18448
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
18307
Congenital Abnormalities
7571
Urogenital Abnormalities
442
disorder of sexual development
230
46, XX Disorders of Sex Development +
32
46, XY Disorders of Sex Development +
80
Adrenogenital Syndrome +
26
Campomelic Dysplasia with Autosomal Sex Reversal
1
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
2
Mullerian aplasia and hyperandrogenism
1
Ovotesticular Disorders of Sex Development +
1
Sex Chromosome Disorders of Sex Development +
26
Verloes Gillerot Fryns Syndrome
0
androgen insensitivity syndrome +
5
cryptorchidism +
60
gonadal dysgenesis +
56
gynecomastia +
10
hermaphroditism
0
hyperandrogenism +
6
methemoglobinemia and ambiguous genitalia
1
pseudohermaphroditism +
7