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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
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Accession:DOID:1923 term browser 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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disorder of sexual development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Amh anti-Mullerian hormone susceptibility ISO Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon RGD PMID:1483695 RGD:1601180 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
JBrowse link
G Cbx2 chromobox 2 ISO RGD PMID:9641679 RGD:9586734 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:25741868 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17071532, PMID:8075637 RGD:1599964 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22615892 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:24076603, PMID:25741868, PMID:26365340, PMID:27195816, PMID:31680349 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:25741868 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency ClinVar PMID:9326943, PMID:11549685, PMID:12466376 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011, PMID:2918056, PMID:8075637, PMID:8469252, PMID:8550739, PMID:8626842, PMID:9029729, PMID:9467575, PMID:9709959, PMID:9758445, PMID:10022457, PMID:10599740, PMID:11158067, PMID:17071532, PMID:17466011, PMID:17509588, PMID:19498320, PMID:20689261, PMID:21214500, PMID:22212252, PMID:23295294, PMID:23375913, PMID:24025597, PMID:24033266, PMID:25383892, PMID:25526675, PMID:25536660, PMID:25740850, PMID:25741868, PMID:28492532 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826, PMID:8933348, PMID:21258343, PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar 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:20219950, 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 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISS OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V RGD PMID:7553856 RGD:1601232 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
46, XX Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
46, XY Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7719343, PMID:19887492 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE OMIM
ClinVar
PMID:25741868 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by synonym: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar Annotator: match by term: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar
OMIM
PMID:21208124, PMID:22051515 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
46,XX sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325, PMID:25741868, PMID:26523528, PMID:27378692, PMID:27490115, PMID:27610946, PMID:27855412 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
46,XX Sex Reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL 5 OMIM
ClinVar
PMID:27363585, PMID:29478779 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Serkal syndrome
ClinVar Annotator: match by OMIM:611812
OMIM
ClinVar
PMID:18179883, PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
46,Xy Gonadal Dysgenesis, Complete, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: SRY-related 46,XY complete gonadal dysgenesis ClinVar PMID:1339396, PMID:1415266, PMID:1438307, PMID:1483689, PMID:1570829, PMID:1619028, PMID:1639410, PMID:1734522, PMID:1956279, PMID:2247149, PMID:2247151, PMID:2401216, PMID:7718558, PMID:7985018, PMID:7987333, PMID:8019555, PMID:8105086, PMID:8257986, PMID:8353496, PMID:9150734, PMID:9443877, PMID:9450909, PMID:9521592, PMID:10843173, PMID:10852465, PMID:12107262, PMID:12409269, PMID:12793612, PMID:20528776, PMID:25741868, PMID:28492532, PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
ClinVar Annotator: match by OMIM:607080
OMIM
ClinVar
PMID:11017805, PMID:11891836, PMID:25927242, PMID:28589169, PMID:28708305, PMID:29471294 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
46,XY sex reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
PMID:11017805 RGD:1601053 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247, PMID:11932325, PMID:15070943 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:27576690, PMID:2247151, PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY SEX REVERSAL, SRY-RELATED
ClinVar Annotator: match by OMIM:400044
OMIM
ClinVar
PMID:1339396, PMID:1415266, PMID:1438307, PMID:1483689, PMID:1570829, PMID:1619028, PMID:1639410, PMID:1734522, PMID:1956279, PMID:2247149, PMID:2247151, PMID:2401216, PMID:7718558, PMID:7985018, PMID:7987333, PMID:8019555, PMID:8105086, PMID:8257986, PMID:8353496, PMID:9150734, PMID:9443877, PMID:9450909, PMID:9521592, PMID:10843173, PMID:10852465, PMID:12107262, PMID:12409269, PMID:12793612, PMID:20528776, PMID:25741868, PMID:28492532, PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by OMIM:616425 ClinVar
OMIM
PMID:567843, PMID:6620326, PMID:22051515, PMID:25604083 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by OMIM:300018 OMIM
ClinVar
PMID:9486644 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
46,XY sex reversal 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: 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 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
ClinVar
OMIM
PMID:11932325, PMID:15070943, PMID:15472171, PMID:15579739, PMID:17200175, PMID:18414213, PMID:19246354, PMID:22028768, PMID:22907560, PMID:23154282, PMID:25122490, PMID:25326637, PMID:25383892, PMID:25741868, PMID:26523528, PMID:27169744, PMID:27378692, PMID:27490115, PMID:27610946, PMID:27855412, PMID:28492532 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO 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:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION ClinVar PMID:25741868 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
JBrowse link
46,XY sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by OMIM:613080 OMIM
ClinVar
PMID:19361780, PMID:25741868 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
JBrowse link
46,XY sex reversal 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal, type 6
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED
ClinVar Annotator: match by OMIM:613762
OMIM
ClinVar
PMID:5419329, PMID:12476449, PMID:12786760, PMID:21129722, PMID:22171599, PMID:24135036, PMID:25326637, PMID:25383892, PMID:25741868, PMID:28492532, PMID:28504475 NCBI chr 2:43,329,516...43,393,203
Ensembl chr 2:43,329,516...43,393,207
JBrowse link
46,XY sex reversal 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, complete, dhh-related
ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
ClinVar Annotator: match by OMIM:233420
OMIM
ClinVar
PMID:15356051, PMID:25741868, PMID:28492532, PMID:30298535 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by OMIM:614279 OMIM
ClinVar
PMID:4352099, PMID:21802064 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8
ClinVar Annotator: match by OMIM:614279
OMIM
ClinVar
PMID:4352099, PMID:21802064, PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
46,XY sex reversal 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by OMIM:616067
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED
ClinVar Annotator: match by term: 46,XY sex reversal 9
ClinVar
OMIM
PMID:14517948, PMID:17568391, PMID:20807224, PMID:21919901, PMID:24033266, PMID:24549039, PMID:24702427, PMID:25741868, PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
46,Xy True Hermaphroditism, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY true hermaphroditism, sry-related ClinVar PMID:1483689, PMID:1570829, PMID:1734522, PMID:1956279, PMID:2247149, PMID:8257986, PMID:9450909, PMID:12793612 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201810
OMIM
ClinVar
CTD
PMID:295036, PMID:1363812, PMID:2755580, PMID:4539073, PMID:7633460, PMID:8316254, PMID:9719627, PMID:10486704, PMID:10599696, PMID:10770215, PMID:10843183, PMID:10973654, PMID:11196452, PMID:11287026, PMID:12050213, PMID:14966389, PMID:16648810, PMID:17689071, PMID:18252794, PMID:24033266, PMID:25526675, PMID:26288759, PMID:27796263, PMID:28492532, PMID:31611844 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
IEP
ClinVar Annotator: match by term: Androgen resistance syndrome
ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Reifenstein syndrome
DNA:missense mutation:exon:p.M749V (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.R615S (human)
DNA:point mutation, repeats:exon
DNA:deletion
protein:altered localization:spinal cord, motor neuron, cytoplasm
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300068
ClinVar Annotator: match by OMIM:312300
OMIM
ClinVar
CTD
PMID:1158706, PMID:1303262, PMID:1307250, PMID:1430233, PMID:1458719, PMID:1569163, PMID:1598912, PMID:1609793, PMID:1720929, PMID:2082179, PMID:2293020, PMID:2332504, PMID:2339702, PMID:2594783, PMID:3174628, PMID:3186717, PMID:3216866, PMID:4061484, PMID:7537149, PMID:7581399, PMID:7641413, PMID:7671849, PMID:7910529, PMID:7970939, PMID:7981687, PMID:7981689, PMID:8033918, PMID:8040309, PMID:8096390, PMID:8097257, PMID:8126121, PMID:8162033, PMID:8281139, PMID:8325932, PMID:8339746, PMID:8413310, PMID:8450040, PMID:8450042, PMID:8626869, PMID:8723113, PMID:8809734, PMID:8823308, PMID:8824883, PMID:8990010, PMID:9039340, PMID:9328206, PMID:9360511, PMID:9543136, PMID:9544375, PMID:9576916, PMID:9627582, PMID:9698822, PMID:9768671, PMID:9788719, PMID:9856504, PMID:10092153, PMID:10221770, PMID:10323251, PMID:10323385, PMID:10425033, PMID:10458483, PMID:10690872, PMID:10834333, PMID:10840043, PMID:11181525, PMID:11225909, PMID:11376111, PMID:11397856, PMID:11549642, PMID:11579211, PMID:11587068, PMID:11788616, PMID:11788673, PMID:11889162, PMID:12068007, PMID:12213902, PMID:12466388, PMID:12705360, PMID:12843171, PMID:14974091, PMID:15531547, PMID:15541764, PMID:15925895, PMID:16083860, PMID:16283146, PMID:16365032, PMID:16373394, PMID:16450583, PMID:17054461, PMID:17937062, PMID:19463997, PMID:20011049, PMID:20150575, PMID:20493947, PMID:20671138, PMID:21730179, PMID:21962961, PMID:22334387, PMID:22995991, PMID:24033266, PMID:24186138, PMID:24321103, PMID:24737579, PMID:24790346, PMID:25241384, PMID:25248670, PMID:25326637, PMID:25433660, PMID:25613104, PMID:25674389, PMID:25741868, PMID:26688387, PMID:26778393, PMID:26980296, PMID:27267075, PMID:27583472, PMID:27899157, PMID:28186600, PMID:28261839, PMID:28456808, PMID:28492532, PMID:28624954, PMID:28857053, PMID:29051026, PMID:29785970, PMID:30311386, PMID:30599484, PMID:1487249, PMID:8325950, PMID:1424203, PMID:20888558, PMID:7970939, PMID:3186717, PMID:7643075 RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:83,095,067...83,128,342
Ensembl chr10:83,095,068...83,128,297
JBrowse link
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:30311386 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Congenital absence of testes OMIM
ClinVar
PMID:31287541, PMID:31337883 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1496995, PMID:1825497, PMID:2973313, PMID:8265607, PMID:8530621, PMID:9177373, PMID:9211678, PMID:9718379, PMID:10566648, PMID:12466340, PMID:14715828, PMID:16882736, PMID:17164303, PMID:20048079, PMID:20186154, PMID:22992668, PMID:23329769, PMID:25088806, PMID:25415177, PMID:25793413, PMID:26191232, PMID:27256151, PMID:28492532 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by null
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:15806394, PMID:25741868, PMID:26633542, PMID:28492532 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISS OMIM:600092 MouseDO NCBI chr13:111,235,325...111,489,075
Ensembl chr13:111,236,466...111,474,411
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
congenital adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1a arginine vasopressin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 7:67,341,366...67,345,290
Ensembl chr 7:67,341,080...67,345,308
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G 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
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO
ISS
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:9302260, PMID:9546661, PMID:12452430, PMID:15026188, PMID:15062555, PMID:16046588, PMID:16670167, PMID:17371482, PMID:20089618, PMID:25525159, PMID:25741868, PMID:25911436, PMID:25913739, PMID:26467025, PMID:26956189, PMID:28492532, PMID:30311386 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISS OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 MouseDO NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G 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
PMID:18645707, PMID:19636199, PMID:2026124 RGD:4889141 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,486,213...4,489,358
Ensembl chr20:4,486,219...4,489,550
JBrowse link
G 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:18252794 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18559916, PMID:17505056 RGD:4889128 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS
DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Lipoid CAH
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, 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:28637490, PMID:29576868, PMID:8634702, PMID:9326645 RGD:1600070, RGD:4145592 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962, PMID:3038528, PMID:24033266, PMID:25741868, PMID:26467025
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:30311386 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: P450c11b1 deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
OMIM
ClinVar
PMID:1430088, PMID:2022736, PMID:3295546, PMID:7049883, PMID:7903314, PMID:8506298, PMID:8768848, PMID:8964882, PMID:8989319, PMID:9302260, PMID:9435454, PMID:9546661, PMID:10487675, PMID:11095433, PMID:11549691, PMID:12452430, PMID:12966519, PMID:15026188, PMID:15062555, PMID:15324322, PMID:15751602, PMID:15755848, PMID:15807871, PMID:16030166, PMID:16046588, PMID:16670167, PMID:16984984, PMID:17121536, PMID:17371482, PMID:17692261, PMID:17726333, PMID:18663314, PMID:19204079, PMID:19820005, PMID:20024693, PMID:20089618, PMID:22465514, PMID:22964742, PMID:23345044, PMID:23940125, 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:27376426, PMID:27376433, PMID:27821898, PMID:28228528, PMID:28492532, PMID:28962970, PMID:29626607, PMID:30311386 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: 21-hydroxylase deficiency
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar PMID:1496017, PMID:1864962, PMID:2303461, PMID:3038528, PMID:3267225, PMID:8034294, PMID:9215318, PMID:10496074, PMID:12220458, PMID:12384784, PMID:14513879, PMID:14715874, PMID:15858147, PMID:19773403, PMID:21134444, PMID:21329531, PMID:21532487, PMID:23166432, PMID:23269230, PMID:23359698, PMID:23769969, PMID:24033266, PMID:24077358, PMID:24904866, PMID:25227725, PMID:25525159, PMID:25538881, PMID:25741868, PMID:26206692, PMID:26209023, PMID:26467025, PMID:26804566, PMID:28392195
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V
ClinVar Annotator: match by term: 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
OMIM
ClinVar
PMID:1577471, PMID:1621662, PMID:1714904, PMID:1740503, PMID:2335573, PMID:2786493, PMID:2843762, PMID:6976525, PMID:7629254, PMID:8550762, PMID:9177409, PMID:9326943, PMID:9435441, PMID:10720067, PMID:11422109, PMID:11549685, PMID:11836339, PMID:12466376, PMID:12706306, PMID:14671162, PMID:14715826, PMID:14715827, PMID:15713706, PMID:15811924, PMID:15844475, PMID:16121340, PMID:16477341, PMID:16569739, PMID:16772352, PMID:16849412, PMID:17192295, PMID:17379008, PMID:19636199, PMID:21340157, PMID:21340163, PMID:21846181, PMID:22087567, PMID:23291414, PMID:23466679, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26543560, PMID:26770544, PMID:27959413, PMID:28008861, PMID:28492532, PMID:28870780, PMID:29595516 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 OMIM:613743
OMIM
ClinVar
PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:24033266, PMID:25741868, PMID:26300845, PMID:27008691, PMID:28492532 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12858176 RGD:1625067 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25526675, PMID:12858176 RGD:1625067 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997, PMID:11150889, PMID:12858176, PMID:15827106, PMID:16091483, PMID:16817821, PMID:17062770, PMID:18628520, PMID:25741868 NCBI chr 5:166,994,683...167,030,441
Ensembl chr 5:166,998,881...167,030,441
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2
ClinVar Annotator: match by OMIM:614662
OMIM
ClinVar
PMID:21325058, PMID:25741868 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 RGD:13434925
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213, PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryptorchidism
CTD
ClinVar
PMID:7697714, PMID:19291773, PMID:25741868 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Casp3 caspase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:26050606, PMID:29606031 RGD:13792609 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:10338090, PMID:12124992, PMID:15365998, PMID:16479318, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Unilateral cryptorchidism ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:23643382, PMID:30311386 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 2:189,654,871...189,735,056
Ensembl chr 2:189,655,702...189,733,540
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Insl3 insulin-like 3 ISO idiopathic cryptorchidism, OMIM:219050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:219050
CTD
ClinVar
OMIM
PMID:11095425, PMID:11746019, PMID:12601553, PMID:12970298, PMID:14687758, PMID:16102138, PMID:12601553 RGD:1600162 NCBI chr16:20,120,753...20,122,702
Ensembl chr16:20,121,352...20,122,696
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar Annotator: match by term: Cryptorchidism
ClinVar PMID:17164310, PMID:23349759, PMID:29452377, PMID:30311386 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism
ClinVar Annotator: match by term: Cryptorchism
ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16498449, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:20041150, PMID:21290976, PMID:22037353, PMID:22337722, PMID:22903357, PMID:23010357, PMID:23070486, PMID:23325590, PMID:23334425, PMID:23867542, PMID:23907647, PMID:24117178, PMID:24318677, 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:30171907, PMID:30311386, PMID:31411330 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO
ISS
bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by OMIM:219050
MouseDO
ClinVar
PMID:12217959, PMID:12970298, PMID:20636340, PMID:12217959 RGD:1600187 NCBI chr12:6,016,884...6,078,411
Ensembl chr12:6,016,884...6,078,411
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Undescended testis ClinVar PMID:28067909 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:28492532, PMID:30564332 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413, PMID:25741868, PMID:30744660, PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:20074521, PMID:25741868, PMID:30311386 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:1024343, PMID:30311386 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:22864515, PMID:23181892, PMID:24033266, PMID:24108619, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
ClinVar Annotator: match by OMIM:194080
ClinVar
OMIM
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1350671, PMID:1655284, PMID:1658787, PMID:1671709, PMID:6307071, PMID:7795587, PMID:8295405, PMID:8388765, PMID:8621495, PMID:8975729, PMID:9090524, PMID:9108089, PMID:9398852, PMID:9475094, PMID:9499425, PMID:9529364, PMID:9607189, PMID:10094551, PMID:10470095, PMID:10505700, PMID:10571943, PMID:10603123, PMID:10762296, PMID:11182928, PMID:12050205, PMID:12471221, PMID:12640141, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:16717397, PMID:16987884, PMID:17496156, PMID:17541636, PMID:17630404, PMID:17853480, PMID:18203154, PMID:18385267, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19484379, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:20442690, PMID:21384108, PMID:21508141, PMID:21851196, PMID:22465478, PMID:22703879, PMID:23117548, PMID:23295293, PMID:23349334, PMID:23497137, PMID:23515051, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24138039, PMID:24161391, PMID:24402088, PMID:24728327, PMID:24856380, PMID:25110071, PMID:25451826, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27241786, PMID:27300205, PMID:27719739, PMID:27899157, PMID:28204945, PMID:28334862, PMID:28492532, PMID:28811308, PMID:29668062, PMID:30963316, PMID:31937884, PMID:32581362, PMID:12161615 RGD:1580624 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: Malouf syndrome
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE
ClinVar Annotator: match by OMIM:212112
OMIM
ClinVar
PMID:2007407, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10739751, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:12927431, PMID:16181372, PMID:16364671, PMID:16415042, PMID:17150192, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19418082, PMID:19427440, PMID:19859838, PMID:20130076, PMID:20625965, PMID:20709679, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23977161, PMID:24033266, PMID:24503780, PMID:24623722, PMID:24846508, PMID:25741868, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:28663758, PMID:28679633, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:31383942 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Frasier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Frasier syndrome
ClinVar Annotator: match by OMIM:136680
OMIM
ClinVar
PMID:1302008, PMID:1658787, PMID:7795587, PMID:8388765, PMID:9108089, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:10571943, PMID:10762296, PMID:12050205, PMID:12471221, PMID:15150775, PMID:19484379, PMID:20442690, PMID:21508141, PMID:21851196, PMID:23117548, PMID:23295293, PMID:23515051, PMID:24033266, PMID:24161391, PMID:24856380, PMID:25741868, PMID:25818337, PMID:27719739, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 no_association ISO RGD PMID:23219007 RGD:9586730 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 treatment IMP RGD PMID:16467257 RGD:12904919 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Tspyl1 TSPY-like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar
OMIM
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
JBrowse link
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Perrault Syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2868085, PMID:2882519, PMID:2921319, PMID:4061497, PMID:8279468, PMID:9345094, PMID:9482850, PMID:9915948, PMID:10400999, PMID:10419023, PMID:10497229, PMID:10671535, PMID:10748062, PMID:11330053, PMID:11743515, PMID:11810648, PMID:11992265, PMID:12562856, PMID:15216544, PMID:16385454, PMID:20673864, PMID:22507161, PMID:22864515, PMID:23100014, PMID:23181892, PMID:23308274, PMID:23332201, PMID:24033266, PMID:24108619, PMID:24553428, PMID:25526675, PMID:25741868, PMID:25882080, PMID:25967389, PMID:26243799, PMID:26467025, PMID:26970254, PMID:27243974, PMID:27290639, PMID:27528516, PMID:27790638, PMID:28017249, PMID:28492532, PMID:28649525, PMID:28830375, PMID:30311386, PMID:31455392 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 6:76,079,880...76,171,298
Ensembl chr 6:76,079,880...76,171,296
JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by OMIM:139210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8898652, PMID:9582123, PMID:9679244, PMID:9811934, PMID:10479724, PMID:10764709, PMID:10775259, PMID:10790223, PMID:10797267, PMID:11274206, PMID:11782434, 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:21835029, PMID:22158539, PMID:22243968, PMID:22316667, PMID:22331366, PMID:22581936, PMID:22585601, PMID:22683461, PMID:22703879, PMID:22748914, PMID:22846733, PMID:22875147, PMID:23239472, PMID:23399955, PMID:24033266, PMID:24398790, PMID:24424121, PMID:24465802, PMID:24580733, PMID:24715504, PMID:24841914, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25559809, PMID:25589618, PMID:25637381, PMID:25695693, PMID:25741868, PMID:25980754, PMID:26420300, PMID:26467025, PMID:26619011, PMID:26633542, PMID:26636501, PMID:26681312, PMID:26976419, PMID:27146957, PMID:27153395, PMID:27302097, PMID:27375208, PMID:27443514, PMID:27562837, PMID:27595937, PMID:27613157, PMID:27978560, PMID:28135145, PMID:28196074, PMID:28492532, PMID:28628100, PMID:28726808, PMID:28873162, PMID:28944238, PMID:29684080, PMID:30809044, PMID:30842500, PMID:30968316, PMID:31474762, PMID:31595668, PMID:31654632, PMID:31837202, PMID:32573726, PMID:22158539 RGD:12880042 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
gynecomastia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7878608, PMID:9334596 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Il6st interleukin 6 signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia
ClinVar Annotator: match by term: Kallmann syndrome 1
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
OMIM
ClinVar
PMID:1518845, PMID:1594017, PMID:1639422, PMID:1904396, PMID:8504298, PMID:9589672, PMID:9713559, PMID:11044805, PMID:11297579, PMID:12050219, PMID:12727945, PMID:15001591, PMID:15605412, PMID:16882753, PMID:17054399, PMID:21681106, PMID:21717404, PMID:22035731, PMID:23100014, PMID:23410897, PMID:23533228, PMID:23643382, PMID:23849776, PMID:25077900, PMID:25339597, PMID:25741868, PMID:26708526, PMID:26862482, PMID:27657687, PMID:28295047, PMID:28492532, PMID:28566479, PMID:28708303 Ensembl chr10:70,999,780...71,000,627 JBrowse link
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:6881209, PMID:7795583, PMID:7874169, PMID:10629055, PMID:10690855, PMID:10861678, PMID:10942429, PMID:11173846, PMID:12627230, PMID:14513299, PMID:14564217, PMID:14613973, PMID:15365636, PMID:15605412, PMID:15793702, PMID:16418210, PMID:16606836, PMID:16764984, PMID:16882753, PMID:16957473, PMID:17154279, PMID:17200176, PMID:17235395, PMID:17360555, PMID:17963255, PMID:18160472, PMID:18596921, PMID:18985070, PMID:19707180, PMID:19820032, PMID:20696889, PMID:21700882, PMID:22378383, PMID:23329143, PMID:23533228, PMID:23643382, PMID:23657145, PMID:24127277, PMID:24204987, PMID:24497711, PMID:24759409, PMID:25064402, PMID:25251565, PMID:25383892, PMID:25394172, PMID:25425165, PMID:25636053, PMID:25741868, PMID:25759380, PMID:26467025, PMID:26708526, PMID:26931467, PMID:27502037, PMID:28008864, PMID:28492532, PMID:28754744 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Kallmann syndrome 3
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia
OMIM
ClinVar
PMID:1855992, PMID:4276467, PMID:8954047, PMID:11259612, PMID:17054399, PMID:18559922, PMID:18682503, PMID:18723471, PMID:18826963, PMID:20022991, 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:24276467, PMID:24753254, PMID:24830383, PMID:25226293, PMID:25678757, PMID:25741868, PMID:25759380, PMID:26031747, PMID:26467025, PMID:27168972, PMID:28492532, PMID:30311386 NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
JBrowse link
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia ClinVar
OMIM
PMID:17054399, PMID:17959774, PMID:18285834, PMID:18559922, PMID:18682503, PMID:23643382, PMID:24423319, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153
JBrowse link
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM
PMID:14760276, PMID:16835919, PMID:23263490, PMID:23447401, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30503519 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
JBrowse link
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated ClinVar PMID:17164309 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
Kallmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr10:70,999,780...71,000,627 JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by OMIM:612370
ClinVar Annotator: match by term: Kallmann Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213, PMID:18445044, PMID:21158681, PMID:22461308, PMID:24033266, PMID:25077900, PMID:25741868, PMID:26467025, PMID:28475860, PMID:28492532, PMID:29304373 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by OMIM:147950
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153
JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS
DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
MouseDO
PMID:23643381 RGD:12832748 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:29,494,004...29,497,232
Ensembl chr18:29,494,014...29,497,410
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
JBrowse link
Kallmann Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:16763960, PMID:18073582, PMID:18414213, PMID:18445044, PMID:18834967, PMID:21158681, PMID:21995344, PMID:22033296, PMID:22461308, PMID:22539353, PMID:23378218, PMID:23533228, PMID:24033266, PMID:24862881, PMID:25077900, PMID:25107291, PMID:25741868, PMID:25931334, PMID:26467025, PMID:28492532, PMID:29255181, PMID:30311386, PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
Leydig Cell Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: LEYDIG CELL HYPOPLASIA, COMPLETE
ClinVar Annotator: match by term: Leydig cell agenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT
ClinVar Annotator: match by OMIM:238320
ClinVar Annotator: match by synonym: LEYDIG CELL HYPOPLASIA, TYPE II
OMIM
ClinVar
CTD
PMID:7527413, PMID:7562970, PMID:7581384, PMID:7692306, PMID:7714085, PMID:7719343, PMID:7757065, PMID:7892197, PMID:8281137, PMID:8559204, PMID:8855841, PMID:8923827, PMID:8943222, PMID:9215288, PMID:9514160, PMID:9626144, PMID:9626653, PMID:9703386, PMID:9817592, PMID:10852464, PMID:11849253, PMID:12050206, PMID:12356766, PMID:15372531, PMID:15472221, PMID:16123233, PMID:16887451, PMID:21490077, PMID:23686864, PMID:23861372, PMID:25741868, PMID:25741869, PMID:26040673, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
Lipoid Congenital Adrenal Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201710
OMIM
ClinVar
CTD
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11502818, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, 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:28637490, PMID:29576868 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
Male Pseudohermaphroditism due to Defective LH Molecule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhb luteinizing hormone subunit beta ISO OMIM NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
Meacham Winn Culler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Meacham syndrome
ClinVar Annotator: match by OMIM:608978
OMIM
ClinVar
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:10603123, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:23497137, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24728327, PMID:25110071, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME ClinVar
OMIM
PMID:25741868, PMID:26633546, PMID:27480277 NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
JBrowse link
Mullerian Aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
ClinVar Annotator: match by OMIM:158330
OMIM
ClinVar
PMID:12016514, PMID:15317892, PMID:16959810, PMID:18182450, PMID:18987495, PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
Ovarian Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian Dysgenesis ClinVar NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 1
ClinVar Annotator: match by OMIM:233300
OMIM
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:12915623, PMID:15249125, PMID:15579795, PMID:15886248, PMID:16084888, PMID:16864747, PMID:17826728, PMID:18159088, PMID:19172541, PMID:19400992, PMID:20087398, PMID:20237833, PMID:21752882, PMID:22401810, PMID:23419799, PMID:25741868, PMID:28492532 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar Annotator: match by term: Premature ovarian failure 4
ClinVar Annotator: match by synonym: Premature ovarian failure 4
OMIM
ClinVar
PMID:15136966, PMID:16464940, PMID:16508750, PMID:16645022, PMID:18614612, PMID:19263482, PMID:20364024, PMID:20547206, PMID:25741868, PMID:28492532, PMID:31957178 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr10:88,997,011...89,002,154
Ensembl chr10:88,997,399...89,002,152
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar
PMID:31042289 NCBI chr10:89,002,109...89,006,075
Ensembl chr10:89,002,116...89,005,213
JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 4 OMIM
ClinVar
PMID:25480036, PMID:26771056, PMID:31042289 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 5 ClinVar
OMIM
PMID:17301727, PMID:25741868, PMID:25774885 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 6 ClinVar
OMIM
PMID:26485283 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 7 ClinVar
OMIM
PMID:29566152, PMID:31042289 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 8 ClinVar
OMIM
PMID:30113650 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by null ClinVar PMID:18085567 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
partial androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer
OMIM
ClinVar
PMID:1303262, PMID:1430233, PMID:1598912, PMID:2010552, PMID:2918059, PMID:7581399, PMID:8040309, PMID:8096390, PMID:8097257, PMID:8281139, PMID:8325932, PMID:8446106, PMID:8723113, PMID:8823308, PMID:8824883, PMID:9039340, PMID:9345099, PMID:9543136, PMID:9768671, PMID:9851768, PMID:10485299, PMID:10543676, PMID:10999818, PMID:11788616, PMID:11788673, PMID:15001585, PMID:15925895, PMID:16083860, PMID:16450583, PMID:16804045, PMID:17054461, PMID:20011049, PMID:24321103, PMID:24737579, PMID:25241384, PMID:25326637, PMID:25741868, PMID:26778393, PMID:27267075, PMID:28186600, PMID:28261839, PMID:28492532, PMID:28624954 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO
ISS
ClinVar Annotator: match by term: Perrault Syndrome
ClinVar Annotator: match by term: Perrault syndrome
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar
MouseDO
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISS
ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome
MouseDO
ClinVar
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 2
ClinVar Annotator: match by OMIM:614926
OMIM
ClinVar
PMID:517579, PMID:21464306, PMID:24033266, PMID:25741868, PMID:31486067 NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by OMIM:614129
OMIM
ClinVar
PMID:17690910, PMID:21660509, PMID:22037954, PMID:23541340, PMID:24824130, PMID:25741868, PMID:27087618 NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359
JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4
ClinVar Annotator: match by OMIM:615300
OMIM
ClinVar
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26537577, PMID:26657938, PMID:26970254, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
Perrault syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5
ClinVar Annotator: match by OMIM:616138
OMIM
ClinVar
PMID:25326637, PMID:25355836, PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: PERRAULT SYNDROME 6 ClinVar
OMIM
PMID:28449065 NCBI chr10:65,272,849...65,291,070
Ensembl chr10:65,272,849...65,291,064
JBrowse link
persistent Mullerian duct syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
OMIM
ClinVar
PMID:1483695, PMID:1809231, PMID:2023927, PMID:2562843, PMID:11760020, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome
ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM
ClinVar
PMID:7493017, PMID:8872466, PMID:11549681, PMID:19457927 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
pseudohermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar PMID:2918056, PMID:8075637, PMID:8469252, PMID:8550739, PMID:8626842, PMID:9029729, PMID:9758445, PMID:10022457, PMID:10599740, PMID:17071532, PMID:17466011, PMID:17509588, PMID:19498320, PMID:20689261, PMID:21214500, PMID:22212252, PMID:23295294, PMID:23375913, PMID:24025597, PMID:24033266, PMID:25383892, PMID:25536660, PMID:25740850, PMID:25741868 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:24265693, PMID:25346251, PMID:25741868, PMID:28041643, PMID:28118664, PMID:28492532 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264600
OMIM
ClinVar
CTD
PMID:431680, PMID:835597, PMID:1406794, PMID:1522235, PMID:1944596, PMID:2154055, PMID:2665940, 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:9745434, PMID:9843052, PMID:10501358, PMID:10718838, PMID:10898110, PMID:10999800, PMID:11869378, PMID:12576851, PMID:12843198, PMID:14560315, PMID:14594182, PMID:15064320, PMID:15266301, PMID:15528927, PMID:15770495, PMID:17609295, PMID:18097518, PMID:18314109, PMID:18350250, PMID:18384427, PMID:18391525, PMID:18469342, PMID:18717241, PMID:19342739, PMID:19492581, PMID:20019388, PMID:20190539, PMID:20493473, PMID:20583543, PMID:20736251, PMID:21147889, PMID:21402750, PMID:21540559, PMID:21631525, PMID:22272144, PMID:22453073, PMID:22876553, PMID:23329752, PMID:23633205, PMID:24665940, PMID:24737579, PMID:24885102, PMID:25605705, PMID:25741868, PMID:25899528, PMID:26446026, PMID:26980298, PMID:27070133, PMID:27899157, PMID:28492532, PMID:28544750, PMID:28663096, PMID:288959874 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by OMIM:612447 OMIM
ClinVar
PMID:11891687, PMID:18611983 NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
JBrowse link
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by OMIM:615542 OMIM
ClinVar
PMID:21220346 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837, PMID:22278433 RGD:12743588, RGD:12743598 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072
ClinVar
CTD
PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by OMIM:194072
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15118671 RGD:1331525 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by OMIM:309585
ClinVar Annotator: match by term: Wilson-Turner X-linked mental retardation syndrome
ClinVar
OMIM
PMID:1746601, PMID:25644381, PMID:25741868, PMID:28492532 NCBI chr  X:65,081,591...65,102,344
Ensembl chr  X:65,081,591...65,102,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        gonadal disease 905
          disorder of sexual development 183
            46, XX Disorders of Sex Development + 28
            46, XY Disorders of Sex Development + 42
            Adrenogenital Syndrome + 24
            Campomelic Dysplasia with Autosomal Sex Reversal 1
            Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 1
            Mullerian aplasia and hyperandrogenism 1
            Ovotesticular Disorders of Sex Development + 1
            Sex Chromosome Disorders of Sex Development + 8
            Verloes Gillerot Fryns Syndrome 0
            androgen insensitivity syndrome + 4
            cryptorchidism + 84
            gonadal dysgenesis + 49
            gynecomastia + 6
            hermaphroditism 0
            hyperandrogenism + 4
            pseudohermaphroditism + 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Urogenital Abnormalities 288
            disorder of sexual development 183
              46, XX Disorders of Sex Development + 28
              46, XY Disorders of Sex Development + 42
              Adrenogenital Syndrome + 24
              Campomelic Dysplasia with Autosomal Sex Reversal 1
              Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 1
              Mullerian aplasia and hyperandrogenism 1
              Ovotesticular Disorders of Sex Development + 1
              Sex Chromosome Disorders of Sex Development + 8
              Verloes Gillerot Fryns Syndrome 0
              androgen insensitivity syndrome + 4
              cryptorchidism + 84
              gonadal dysgenesis + 49
              gynecomastia + 6
              hermaphroditism 0
              hyperandrogenism + 4
              pseudohermaphroditism + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.