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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:Urogenital Abnormalities
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Accession:DOID:9001611 term browser browse the term
Definition:Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Synonyms:exact_synonym: Genitourinary Abnormalities;   Genitourinary Abnormality;   genitourinary tract anomalies;   urogenital abnormality
 primary_id: MESH:D014564
 alt_id: MESH:C564424
For additional species annotation, visit the Alliance of Genome Resources.

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Urogenital Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor, type 2 ISO DNA:transition:intron
DNA:transition:intron:-1332A>G (human)		 RGD PMID:16133060, PMID:15470205 RGD:6903850, RGD:6903853 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842 		JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7954831, PMID:10930571, PMID:11093277 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955 		JBrowse link
G Hoxa13 homeo box A13 ISO hand-foot-genital syndrome, OMIM:140000 RGD PMID:9020844 RGD:1599526 Ensembl chr 4:82,228,017...82,229,397 JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030 		JBrowse link
G Wnt4 Wnt family member 4 ISO utero-vaginal atresia (MRKH), OMIM:277000 RGD PMID:15317892 RGD:1599857 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579 		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
Allanson Pantzar McLeod Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116425 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116425, PMID:17036344 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116425 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Renotubular dysgenesis ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15776424, PMID:15952211, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904 		JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Renotubular dysgenesis ClinVar PMID:30311386 NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116425 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain susceptibility ISO DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11134255, PMID:12028435, PMID:12631109, PMID:14582039, PMID:14871398, PMID:15880327, PMID:15954103, PMID:17216251, PMID:18385178, PMID:19525337, PMID:20847057, PMID:21862460, PMID:22887978, PMID:23967202, PMID:24033266, PMID:24052634, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25407002, PMID:25514610, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26346198, PMID:26467025, PMID:26795916, PMID:26809805, PMID:26934356, PMID:27391953, PMID:27627812, PMID:27859054, PMID:28492532, PMID:28632965, PMID:7987301 RGD:1600924 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome
ClinVar Annotator: match by term: Alport syndrome, autosomal recessive		 ClinVar PMID:1721625, PMID:9792860, PMID:11134255, PMID:11685592, PMID:11961012, PMID:12028435, PMID:12631110, PMID:14582039, PMID:14871398, PMID:15618242, PMID:15880327, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24130771, PMID:25381091, PMID:25514610, PMID:25575550, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27884173, PMID:28059119, PMID:28492532, PMID:28780565, PMID:29098738 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO Alport Syndrome, OMIM:301050, DNA:deletion:exons
ClinVar Annotator: match by term: Alport syndrome		 ClinVar PMID:8651292, PMID:9848783, PMID:10563487, PMID:11223851, PMID:18083113, PMID:19919694, PMID:23572034, PMID:25741868, PMID:26467025, PMID:27627812, PMID:28492532, PMID:2349482 RGD:1600687 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822 		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
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750		 OMIM
ClinVar		 PMID:9360545, PMID:12116245, PMID:14513299, PMID:14758361, PMID:15220035, PMID:15483095, PMID:15793702, PMID:16470797, PMID:18559916, PMID:20124576, PMID:20940534, PMID:25741868, PMID:28492532, PMID:28841001, PMID:31837199 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814 		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 dominant Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant
ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss
ClinVar Annotator: match by term: Alport syndrome, autosomal dominant		 OMIM
ClinVar		 PMID:1400291, PMID:7987301, PMID:7987396, PMID:9195222, PMID:9269635, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:20847057, PMID:21897443, PMID:22887978, PMID:24033266, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25575550, PMID:25596306, PMID:25741868, PMID:26346198, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:27391953, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28658201, PMID:29098738, PMID:29204651, PMID:29271581, PMID:29854973, PMID:30311386, PMID:30406062, PMID:30828794, PMID:31306228 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal dominant
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant		 ClinVar PMID:9792860, PMID:11961012, PMID:12631110, PMID:12748344, PMID:15618242, PMID:19129241, PMID:21897443, PMID:24033266, PMID:24052634, PMID:24633401, PMID:25525159, PMID:25596306, PMID:25741868, PMID:26467025, PMID:26809805, PMID:28492532 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625 		JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISS OMIM:180700 MouseDO NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:23806086, PMID:24088041, PMID:25741868, PMID:26924530 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25741868 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 OMIM
ClinVar		 PMID:5771504, PMID:16602827, PMID:18414213, PMID:19918918, PMID:24716670, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29276006, PMID:30311386, PMID:30760477 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860 		JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar
OMIM		 PMID:10319206, PMID:23806086, PMID:24088041, PMID:25045061, PMID:25817014, PMID:25817016, PMID:26924530, PMID:28492532, PMID:29276006 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:25759469, PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057 		JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3		 ClinVar
OMIM		 PMID:23806086, PMID:24088041, PMID:25741868, PMID:26924530 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 ClinVar PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057 		JBrowse link
autosomal recessive Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE		 OMIM
ClinVar		 PMID:1400291, PMID:7633417, PMID:7780062, PMID:7987301, PMID:7987396, PMID:8956999, PMID:9195222, PMID:9269635, PMID:9647515, PMID:11044206, PMID:11134255, PMID:11961012, PMID:12028435, PMID:14582039, PMID:14871398, PMID:15954103, PMID:17216251, PMID:17396119, PMID:18436078, PMID:20847057, PMID:21897443, PMID:22887978, PMID:23297803, PMID:23927549, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24130771, PMID:24633401, PMID:24854265, PMID:24944784, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25407002, PMID:25450602, PMID:25525159, PMID:25575550, PMID:25596306, PMID:25741868, PMID:25888712, PMID:26277931, PMID:26346198, PMID:26467025, PMID:26594346, PMID:26795916, PMID:26809805, PMID:27281700, PMID:27627812, PMID:27796712, PMID:27859054, PMID:27932480, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28570636, PMID:28658201, PMID:29127259, PMID:29204651, PMID:29270492, PMID:29271581, PMID:29854973, PMID:29946535, PMID:30311386, PMID:30406062, PMID:30881523, PMID:31807928, PMID:32860008 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome, autosomal recessive
ClinVar Annotator: match by term: Alport syndrome type 2		 OMIM
ClinVar		 PMID:7987396, PMID:8787673, PMID:9195222, PMID:9792860, PMID:11961012, PMID:12028435, PMID:12325029, PMID:12631110, PMID:12748344, PMID:14582039, PMID:15618242, PMID:15954103, PMID:16338941, PMID:17216251, PMID:17396119, PMID:19129241, PMID:19675380, PMID:20029656, PMID:21196518, PMID:21897443, PMID:22887978, PMID:23349334, PMID:23967202, PMID:24033266, PMID:24033287, PMID:24052634, PMID:24522496, PMID:24633401, PMID:24854265, PMID:25229338, PMID:25307543, PMID:25381091, PMID:25514610, PMID:25525159, PMID:25596306, PMID:25741868, PMID:25755845, PMID:26467025, PMID:26809805, PMID:26934356, PMID:27281700, PMID:28117080, PMID:28492532, PMID:28542346, PMID:28632965, PMID:28968992, PMID:29098738, PMID:29801666, PMID:30311386 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive
ClinVar Annotator: match by OMIM:268310
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:10932186, PMID:10932187, PMID:10986040, PMID:12815588, PMID:15952209, PMID:16049033, PMID:17665217, PMID:18252861, PMID:18414213, PMID:18831060, PMID:19640924, PMID:25741868, PMID:26284319, PMID:28492532, PMID:24932600, PMID:14745966, PMID:18353862 RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386 		JBrowse link
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM
ClinVar		 PMID:29276006 NCBI chr10:64,411,710...64,550,147
Ensembl chr10:64,412,833...64,550,145 		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
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome
ClinVar Annotator: match by OMIM:613680		 OMIM
ClinVar		 PMID:11060033, PMID:15998806, PMID:18414213, PMID:19059247, PMID:20503307, PMID:23621916, PMID:25741868, PMID:26739162, PMID:27102954, PMID:27295358, PMID:30238602, PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495 		JBrowse link
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr15:33,107,706...33,114,831
Ensembl chr15:33,108,671...33,114,829 		JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:163,794,136...163,813,756
Ensembl chr 1:163,797,660...163,813,756 		JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:17089161, PMID:18372316, PMID:20429427, PMID:21889601, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675 		JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:18372316, PMID:21325395, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675 		JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100		 ClinVar
CTD
OMIM		 PMID:11175783, PMID:11468277, PMID:11776388, PMID:12149404, PMID:12161610, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:19429596, PMID:25741868, PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597 		JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral ClinVar
OMIM		 PMID:26235987 NCBI chr 8:95,359,354...95,387,363
Ensembl chr 8:95,359,354...95,387,363 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384 		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
Cardiac-Urogenital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: CARDIAC-UROGENITAL SYNDROME OMIM
ClinVar		 PMID:25741868, PMID:29446546, PMID:30070761, PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480 		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
corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud Levine Carpenter syndrome OMIM
ClinVar		 PMID:1605226, PMID:14722918, PMID:18414213, PMID:22252899, PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		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
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
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000		 ClinVar
OMIM		 PMID:12766769, PMID:16894541, PMID:17163535, PMID:18671281, PMID:21900877, PMID:22029163, PMID:23532946, PMID:24476948, PMID:24551978, PMID:24583203, PMID:24700879, PMID:25353622, PMID:25741868, PMID:26893459, PMID:27280866, PMID:28492532, PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868, PMID:26275891, PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 FRAS1 related extracellular matrix 2 IAGP
ISO		 ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM		 PMID:15838507, PMID:18203166, PMID:18671281, PMID:24115501, PMID:25741868, PMID:26275891, PMID:28492532, PMID:29688405, PMID:30311386, PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604 		JBrowse link
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant IAGP RGD PMID:21756877 RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar
OMIM		 PMID:21383172, PMID:22510445, PMID:24033266, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189 		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
Fused Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Horseshoe kidneys ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Horseshoe kidneys ClinVar PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9482292, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10982180, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11483639, PMID:11493200, PMID:11668644, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12172392, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12684873, PMID:12786762, PMID:14070830, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15666300, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16300957, PMID:16336662, PMID:16380907, PMID:16773579, PMID:16868655, PMID:17041943, PMID:17428550, PMID:17553572, PMID:17661817, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18804553, PMID:18925674, PMID:18985073, PMID:19173109, PMID:19371219, PMID:19375528, PMID:19925344, PMID:19941053, PMID:20073550, PMID:20236118, PMID:20301449, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21094084, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22037723, PMID:22281373, PMID:22567152, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23489192, PMID:23757202, PMID:24033266, PMID:24158611, PMID:24346070, PMID:24793888, PMID:25214170, PMID:25637381, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26467025, PMID:26896187, PMID:26940866, PMID:26969326, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30872814, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Horseshoe kidneys ClinVar PMID:9695949, PMID:23159249, PMID:25326635, PMID:25356970, PMID:25522177, PMID:25741868, PMID:25741881, PMID:26795593, PMID:26842493, PMID:26944241, PMID:27681385, PMID:28111752, PMID:28471432, PMID:28492532, PMID:28554332, PMID:28628100, PMID:28975623, PMID:29550517, PMID:30113927, PMID:30311386, PMID:30690871, PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636 		JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders		 ClinVar PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:25424711, PMID:25741868, PMID:28492532, PMID:32424177 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:606170		 OMIM
ClinVar		 PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:24033266, PMID:25326635, PMID:25424711, PMID:25473036, PMID:25741868, PMID:25937001, PMID:28492532, PMID:32424177, PMID:22265017 RGD:9588485 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576 		JBrowse link
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ClinVar
OMIM		 PMID:25741868, PMID:31349857, PMID:31883643 NCBI chr 7:51,404,971...51,515,382
Ensembl chr 7:51,404,919...51,515,373 		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
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176305		 OMIM
CTD
ClinVar		 PMID:8484413, PMID:11968094, PMID:24239177 Ensembl chr 4:82,228,017...82,229,397 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
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO hand-foot-genital syndrome, OMIM:140000
ClinVar Annotator: match by term: Hand foot uterus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:140000		 ClinVar
CTD
OMIM		 PMID:1442892, PMID:2774004, PMID:5450271, PMID:8673126, PMID:9020844, PMID:10839976, PMID:12073020, PMID:12414828, PMID:17935235, PMID:24239177, PMID:9020844 RGD:1599526 Ensembl chr 4:82,228,017...82,229,397 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
hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
ISS		 OMIM:146450 | OMIM:300633 | OMIM:300758 | OMIM:300856
mRNA:decreased expression:mucosa of urethra 		MouseDO PMID:15472213, PMID:23386417 RGD:1578685, RGD:11576230 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypospadia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association ISO RGD PMID:15579657, PMID:21300689 RGD:11576312, RGD:11576313 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153, PMID:27098078 NCBI chr  X:16,441,318...16,526,046
Ensembl chr  X:16,442,899...16,537,888 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) RGD PMID:17579196, PMID:17579196 RGD:1626506, RGD:1626506 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369 		JBrowse link
G Fgf8 fibroblast growth factor 8 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246 		JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 Ensembl chr 4:82,228,017...82,229,397 JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity RGD PMID:14764821 RGD:1625114
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14764821 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypospadia ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 susceptibility ISO protein:missense mutations:cds:p.R227Q, p.F186L (human) RGD PMID:10514539 RGD:1600059 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511 		JBrowse link
Hypospadias 1, X-Linked 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: Hypospadias 1, X-linked
ClinVar Annotator: match by OMIM:300633		 OMIM
ClinVar		 PMID:8097257, PMID:8683794, PMID:25326637, PMID:25741868 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMAGE Syndrome
ClinVar Annotator: match by OMIM:614732		 OMIM
CTD
ClinVar		 PMID:15769992, PMID:22634751, PMID:24098681, PMID:25057881, PMID:25614875, PMID:28492532, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721 		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
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215		 OMIM
ClinVar		 PMID:11891829, PMID:11971879, PMID:12379852, PMID:12874405, PMID:12874418, PMID:14722918, PMID:18414213, PMID:18462864, PMID:19439424, PMID:19507262, PMID:19606478, PMID:20300201, PMID:22252899, PMID:22922607, PMID:23246292, PMID:23757202, PMID:24781210, PMID:25741868, PMID:26029707, PMID:28492532, PMID:12379852 RGD:11565832 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143 		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
Multicystic Dysplastic Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multicystic kidney dysplasia ClinVar PMID:25741868, PMID:30143558 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Multicystic renal dysplasia 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 Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Multicystic renal dysplasia ClinVar PMID:25741868 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Multicystic renal dysplasia ClinVar PMID:25741868, PMID:26467025 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Multicystic renal dysplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257 		JBrowse link
NFIA-related disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS ClinVar
OMIM		 PMID:24462883, PMID:25714559, PMID:25741868, PMID:27081522 NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416 		JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I		 OMIM
ClinVar		 PMID:9354791, PMID:11030761, PMID:12545276, PMID:15558842, PMID:17221865, PMID:18360914, PMID:18949047, PMID:21326312, PMID:23757202, PMID:25207814, PMID:25741868, PMID:25874572, PMID:26064728, PMID:26788540, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272 		JBrowse link
Opitz GBBB syndrome type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar		 PMID:3228142, PMID:25412741, PMID:25741868 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793 		JBrowse link
Opitz-GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISS
ISO		 OMIM:145410 | OMIM:300000
ClinVar Annotator: match by term: TELECANTHUS-HYPOSPADIAS SYNDROME		 MouseDO
ClinVar		 PMID:25741868, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272 		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
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome
ClinVar Annotator: match by OMIM:119500		 OMIM
ClinVar		 PMID:12219090, PMID:14757865, PMID:18478600, PMID:18617879, PMID:19036739, PMID:20803643, PMID:22488974, PMID:24936515, PMID:25547932, PMID:25548624, PMID:25691407, PMID:28492532, PMID:29453417 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS		 ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650		 ClinVar
MouseDO		 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217 		JBrowse link
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650		 OMIM
ClinVar		 PMID:10925380, PMID:15264293, PMID:22197488, PMID:22197489, PMID:23074676, PMID:23610050, PMID:25326635, PMID:25741868, PMID:26752647, PMID:28492532, PMID:28940926 NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217 		JBrowse link
Progressive Renal Failure with Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:15928032 RGD:7204486 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911 		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
Pyelectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Fetal pyelectasis ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883 		JBrowse link
renal agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G