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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.


show annotations for term's descendants           Sort by:
 
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:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		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:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G Hoxa13 homeo box A13 ISO hand-foot-genital syndrome, OMIM:140000 RGD PMID:9020844 RGD:1599526 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 RGD PMID:12219090 RGD:1600214 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Wnt4 Wnt family member 4 ISO utero-vaginal atresia (MRKH), OMIM:277000 RGD PMID:15317892 RGD:1599857 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859 		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: 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: Isolated 17,20-lyase deficiency ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
17-beta hydroxysteroid dehydrogenase 3 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: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554 		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: 3MC syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Ovarian dysgenesis		 ClinVar
RGD		 PMID:7553856 RGD:1601232 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		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 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7719343 PMID:19887492 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY disorder of sex development		 CTD
ClinVar		 PMID:28492532 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:8353496 PMID:25741868 PMID:29378242
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 1 OMIM
ClinVar		 PMID:25741868
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 term: 46,XX sex reversal 2 OMIM
ClinVar		 PMID:21208124 PMID:22051515 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		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:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		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:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar		 PMID:18179883 PMID:25741868 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859 		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 OMIM
ClinVar		 PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 More... NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
46,XY sex reversal 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: Pure gonadal dysgenesis 46,XY ClinVar PMID:11549642 PMID:25741868 PMID:27899157 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 PMID:33189935 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
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
RGD		 PMID:11017805 RGD:1601053 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27576690 PMID:2247151 PMID:8257986 RGD:1599179, RGD:1598780
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 1 OMIM
ClinVar		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More...
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 term: 46,XY sex reversal 10 OMIM
ClinVar		 PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		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 term: 46,XY sex reversal 2 OMIM
ClinVar		 PMID:9486644 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		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: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 OMIM
ClinVar		 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		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 term: 46,XY sex reversal 5 OMIM
ClinVar		 PMID:19361780 PMID:25741868 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383 		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 6 OMIM
ClinVar		 PMID:5419329 PMID:11242112 PMID:12476449 PMID:21129722 PMID:25326637 More... NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463 		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 sex reversal 7 OMIM
ClinVar		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
46,XY sex reversal 8 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 ClinVar Annotator: match by term: 46,XY sex reversal 8 OMIM
ClinVar		 PMID:4352099 PMID:21802064 PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		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 term: 46,XY sex reversal 9 OMIM
ClinVar		 PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 More...
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		 OMIM
ClinVar
CTD		 PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247 		JBrowse link
Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
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: Congenital hereditary hematuria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 More... RGD:1600924 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane ClinVar PMID:1721625 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		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 Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane		 ClinVar
RGD		 PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 More... RGD:1600687 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:kidney RGD PMID:16509766 RGD:7241252 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:30311386 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*16 (human) RGD PMID:15182324 RGD:7365078 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		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:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283 		JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745 		JBrowse link
G Arglu1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:80,753,300...80,777,350
Ensembl chr16:80,753,315...80,777,349 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153 		JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066 		JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470 		JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559 		JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937 		JBrowse link
G Mettl21c methyltransferase like 21C ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
G Nalf1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,713,577...80,236,424
Ensembl chr16:79,713,724...80,235,120 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138 		JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545 		JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,292,272...95,295,316
Ensembl chr15:95,292,265...95,296,091 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787 		JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035 		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
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		 OMIM
ClinVar
CTD
RGD		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567 		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: Testicular regression syndrome OMIM
ClinVar		 PMID:25741868 PMID:31287541 PMID:31337883 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802 		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 OMIM
ClinVar		 PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
aromatase excess 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: Gynecomastia, familial ClinVar PMID:16804045 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		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: Autosomal dominant Alport syndrome OMIM
ClinVar		 PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss ClinVar PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		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
ISO		 OMIM:180700
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1		 MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 OMIM
ClinVar		 PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234 		JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar NCBI chr 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 OMIM
ClinVar		 PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:29276006 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		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: Autosomal dominant Robinow syndrome 3 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334 		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 8:123,556,286...123,561,841 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:1400291 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 More... NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome type 2 | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9792860 PMID:11961012 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:203780 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		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 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | 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
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)		 OMIM
ClinVar
CTD
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		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:25741868 PMID:29276006 NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251 		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 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations OMIM
ClinVar		 PMID:11152140 PMID:11476068 PMID:15521984 PMID:21204224 PMID:22002929 More... NCBI chr15:9,051,661...9,111,220
Ensembl chr15:9,051,341...9,112,085 		JBrowse link
Bartsocas-Papas Syndrome 1 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 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations OMIM
ClinVar		 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
bilateral renal aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npnt nephronectin ISS MouseDO NCBI chr 2:221,391,151...221,459,527
Ensembl chr 2:221,391,153...221,459,401 		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 PMID:28492532 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 9:66,117,370...66,119,127
Ensembl chr 9:66,113,112...66,121,457 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505 		JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:22581971 PMID:23401279 PMID:24398796 PMID:28492532 PMID:30426266 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294 		JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr10:88,680,248...88,724,170
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1		 CTD
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		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, ptosis, and epicanthus inversus without premature ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		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 syndrome ClinVar NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197 		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: Blepharophimosis, ptosis, and epicanthus inversus syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		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 term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		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 PMID:34782754 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		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 ISO ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome OMIM
ClinVar		 PMID:24784881 PMID:30912300 NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893 		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 PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		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 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		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 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISS
ISO		 OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar Annotator: match by term: Congenital adrenal hyperplasia		 MouseDO
ClinVar		 PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		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 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		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
RGD		 PMID:8396144 PMID:9326943 PMID:9601054 PMID:11549685 PMID:12466376 More... RGD:4889141 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923 		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:7633460 PMID:8060486 PMID:10599696 PMID:10651755 PMID:10656999 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 More... RGD:4889128 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Ren renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS		 DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110		 ClinVar
MouseDO
RGD		 PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... RGD:1600070, RGD:4145592 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 More...
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: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency OMIM
ClinVar		 PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		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 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:28492532 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 More...
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: ADRENAL HYPERPLASIA V | ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 OMIM
ClinVar		 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		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 term: P450scc DEFICIENCY OMIM
ClinVar		 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		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: Corpus callosum agenesis-abnormal genitalia syndrome | ClinVar Annotator: match by term: Proud syndrome OMIM
ClinVar		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		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
RGD		 PMID:12858176 RGD:1625067 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		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 OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		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 OMIM
ClinVar		 PMID:21325058 PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:32037220 PMID:24983376 RGD:38548917, RGD:13434925 NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494 		JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		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:24690944 PMID:25741868 PMID:28371217 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
G Casp3 caspase 3 ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26050606 PMID:29606031 RGD:13792609 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278 		JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		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 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Insl3 insulin-like 3 ISO idiopathic cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Cryptorchidism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 More... RGD:1600162 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:28492532 PMID:29452377 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690 		JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO
ISS		 bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Cryptorchidism		 MouseDO
ClinVar
RGD		 PMID:12217959 PMID:12970298 PMID:20636340 PMID:12217959 RGD:1600187 NCBI chr12:4,925,722...4,986,596
Ensembl chr12:4,925,722...4,986,596 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28067909 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		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 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)		 ClinVar
OMIM
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome ClinVar
OMIM
RGD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 More... RGD:1580624 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 OMIM
ClinVar		 PMID:2007407 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
disorder of sexual development 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 CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		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 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar
RGD		 PMID:9641679 RGD:9586734 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383 		JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:25741868 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412 		JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Disorder of sex development
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17071532 PMID:8075637 RGD:1599964 NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22615892 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492 		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:28492532 More... NCBI chr 1:115,880,137...115,884,680
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:28492532 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:25741868 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr12:4,925,722...4,986,596
Ensembl chr12:4,925,722...4,986,596 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:25741868 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Disorder of sex development ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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
ClinVar Annotator: match by term: Cryptophthalmos with other malformations		 CTD
ClinVar		 PMID:17163535 PMID:18671281 PMID:25741868 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		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
OMIM
RGD		 PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 More... RGD:1598960 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		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
RGD		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 More... RGD:13464328 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		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 chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 OMIM
ClinVar		 PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 More... NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		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 OMIM
ClinVar		 PMID:1302008 PMID:1658787 PMID:7795587 PMID:8388765 PMID:9108089 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 OMIM
ClinVar		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
Fused Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Horseshoe kidney ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:12210329 PMID:12210330 PMID:16761293 PMID:17576681 More... RGD:9588485 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31349857 PMID:31883643 NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425 		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 chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383 		JBrowse link
G Dmrt2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 treatment IMP RGD PMID:16467257 RGD:12904919 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		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 chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		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 OMIM
ClinVar		 PMID:25741868 PMID:30893644 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:25741868 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		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 Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8898652 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		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 term: Guttmacher syndrome		 OMIM
CTD
ClinVar		 PMID:8484413 PMID:11968094 PMID:24239177 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091 		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 chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		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-genital syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... RGD:1599526 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091 		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 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		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 OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		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 Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663 		JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia OMIM
ClinVar		 PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074 		JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226 		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: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia OMIM
ClinVar		 PMID:1855992 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		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 OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		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
RGD		 PMID:15472213 PMID:23386417 RGD:1578685, RGD:11576230 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153 PMID:27098078 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgf8 fibroblast growth factor 8 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fscn3 fascin actin-bundling protein 3 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 4:57,042,797...57,052,224
Ensembl chr 4:57,042,797...57,052,404 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528 		JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091 		JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		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 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
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 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843 		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 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283 		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 OMIM
ClinVar		 PMID:8097257 PMID:8683794 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		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 ClinVar Annotator: match by term: IMAGe syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		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 OMIM
ClinVar		 PMID:14760276 PMID:16835919 PMID:20091185 PMID:21129811 PMID:23263490 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		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:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		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 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia		 CTD
ClinVar		 PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism and anosmia		 CTD
ClinVar		 PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia		 ClinVar
MouseDO
RGD		 PMID:23643381 RGD:12832748 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538 		JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		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:9536098 PMID:16763960 PMID:17576681 PMID:18073582 PMID:18414213 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
Klinefelter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004 		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: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
Leydig cell hypoplasia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISS
ISO		 OMIM:238320
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I		 MouseDO
ClinVar		 PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
Leydig cell hypoplasia type II 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, type II ClinVar PMID:9215288 PMID:9626653 PMID:10852464 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
L