Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   INHERITED GENITOURINARY TRACT ANOMALIES;   genitourinary tract anomalies;   urogenital abnormality
 primary_id: MESH:D014564
 alt_id: MESH:C564424;   OMIM:305690

GViewer not supported for the selected species.

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:15470205 PMID:16133060 RGD:6903850 RGD:6903853 NCBI chrNW_004936479:13,252,678...13,255,570
Ensembl chrNW_004936479:13,252,678...13,255,570 		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 chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Inherited genitourinary tract anomalies ClinVar PMID:32666543 NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014 		JBrowse link
G Hoxa13 homeobox A13 ISO hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter RGD PMID:9020844 RGD:1599526 NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X RGD PMID:12219090 RGD:1600214 NCBI chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chrNW_004936803:765,839...782,176 JBrowse link
G Tbc1d31 TBC1 domain family member 31 ISO ClinVar Annotator: match by term: Inherited genitourinary tract anomalies ClinVar PMID:37468454 NCBI chrNW_004936470:24,164,666...24,236,091
Ensembl chrNW_004936470:24,164,667...24,236,065 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007 		JBrowse link
G Wnt4 Wnt family member 4 ISO utero-vaginal atresia (MRKH), OMIM:277000 RGD PMID:15317892 RGD:1599857 NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664 		JBrowse link
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713 		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 Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM
ClinVar		 PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chrNW_004936487:228,301...282,495
Ensembl chrNW_004936487:228,557...245,295 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin subfamily member 11 ISO ClinVar Annotator: match by term: 3MC syndrome 2 OMIM
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		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 chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		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 ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		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 chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: 46,XX disorder of sex development ClinVar NCBI chrNW_004936471:4,893,185...4,910,779
Ensembl chrNW_004936471:4,893,078...4,910,859 		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 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936634:1,830,252...1,925,622
Ensembl chrNW_004936634:1,830,593...1,958,640 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar PMID:25741868 NCBI chrNW_004936512:10,706,043...10,712,797
Ensembl chrNW_004936512:10,705,350...10,713,517 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936588:4,345,306...4,453,380
Ensembl chrNW_004936588:4,345,306...4,453,668 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: DSD incomplete virilization ClinVar PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936483:6,886,447...6,900,986
Ensembl chrNW_004936483:6,886,153...6,900,997 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:17694559 PMID:20887963 PMID:25741868 PMID:27899157 PMID:28492532 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chrNW_004936501:128,386...132,648
Ensembl chrNW_004936501:127,703...132,704 		JBrowse link
G Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:28492532 NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar PMID:21208124 PMID:22051515 NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705 		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 chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		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:25741868 PMID:27363585 PMID:29478779 NCBI chrNW_004936483:6,886,447...6,900,986
Ensembl chrNW_004936483:6,886,153...6,900,997 		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:25741868 PMID:28492532 PMID:29566152 NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar		 PMID:18179883 PMID:25741868 NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664 		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 chrNW_004936512:6,885,607...6,889,955
Ensembl chrNW_004936512:6,885,607...6,889,992 		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:25741868 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		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 chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Dhh desert hedgehog signaling molecule susceptibility ISO DNA:missense mutation:exon
ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD		 RGD
ClinVar		 PMID:11017805 RGD:1601053 NCBI chrNW_004936512:6,885,607...6,889,955
Ensembl chrNW_004936512:6,885,607...6,889,992 		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 chrNW_004936503:3,944,941...4,049,132
Ensembl chrNW_004936503:3,944,933...4,049,132 		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 chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:6620326 PMID:22051515 PMID:25604083 NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705 		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 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive OMIM
ClinVar		 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chrNW_004936553:6,436,371...6,440,141
Ensembl chrNW_004936553:6,436,371...6,440,141 		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 chrNW_004936675:3,408,549...3,420,828 JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 More... NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		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 chrNW_004936503:3,944,941...4,049,132
Ensembl chrNW_004936503:3,944,933...4,049,132 		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 chrNW_004936594:3,886,926...3,902,459
Ensembl chrNW_004936594:3,893,772...3,900,000 		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 GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 OMIM
ClinVar		 PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 More... NCBI chrNW_004936480:11,082,811...11,156,691
Ensembl chrNW_004936480:11,083,605...11,156,691 		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 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis OMIM
ClinVar		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chrNW_004936512:6,885,607...6,889,955
Ensembl chrNW_004936512:6,885,607...6,889,992 		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, FOG family member 2 ISO ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 OMIM
ClinVar		 PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 More... NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		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 chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More... NCBI chrNW_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417 		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:25741913 More... NCBI chrNW_004936543:250,174...256,405
Ensembl chrNW_004936543:247,096...256,629 		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 chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337 		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		 RGD
ClinVar		 PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 More... RGD:1600924 NCBI chrNW_004936525:8,642,744...8,774,975 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 chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Col4a5 collagen type IV alpha 5 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:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 More... NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22937108 RGD:7175090 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:16816359 RGD:7241212 NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843 		JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10973259 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Alport syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		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 (PEL blood group) ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648 		JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:3,845,934...3,858,465
Ensembl chrNW_004936472:3,846,629...3,847,642 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:2,025,701...2,055,956
Ensembl chrNW_004936472:2,025,695...2,056,126 		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 chrNW_004936472:5,105,836...5,131,294
Ensembl chrNW_004936472:5,105,269...5,134,313 		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 chrNW_004936472:8,237,680...8,273,335
Ensembl chrNW_004936472:8,239,064...8,267,493 		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 chrNW_004936472:2,144,407...2,180,431
Ensembl chrNW_004936472:2,144,335...2,180,392 		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 chrNW_004936472:8,305,760...8,337,456 JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:14,205,311...14,308,932
Ensembl chrNW_004936472:14,207,681...14,308,932 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:10,666,345...10,919,694
Ensembl chrNW_004936472:10,686,927...10,919,702 		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 chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		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 chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:15,074,947...15,110,427
Ensembl chrNW_004936472:15,074,633...15,110,534 		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 chrNW_004936472:14,055,548...14,126,173
Ensembl chrNW_004936472:14,055,532...14,126,211 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:11,461,452...11,634,519
Ensembl chrNW_004936472:11,424,345...11,633,386 		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 chrNW_004936472:14,141,502...14,205,543
Ensembl chrNW_004936472:14,143,797...14,207,982 		JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:5,138,751...5,181,630
Ensembl chrNW_004936472:5,138,745...5,181,668 		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 chrNW_004936472:8,209,482...8,234,696
Ensembl chrNW_004936472:8,209,540...8,234,334 		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 chrNW_004936472:11,891,234...12,100,202
Ensembl chrNW_004936472:11,887,767...12,100,242 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:10,127,305...10,167,543
Ensembl chrNW_004936472:10,127,470...10,166,552 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:15,136,656...16,177,597
Ensembl chrNW_004936472:15,137,770...16,176,943 		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 chrNW_004936472:11,240,287...11,242,157
Ensembl chrNW_004936472:11,240,880...11,241,875 		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 chrNW_004936472:14,963,022...14,989,709
Ensembl chrNW_004936472:14,959,862...14,989,709 		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 chrNW_004936472:11,196,567...11,198,890
Ensembl chrNW_004936472:11,186,267...11,198,832 		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 chrNW_004936472:13,157,669...13,811,747
Ensembl chrNW_004936472:13,163,842...13,811,708 		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 chrNW_004936472:2,132,991...2,140,343 JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:12,231,970...12,271,639
Ensembl chrNW_004936472:12,229,922...12,271,964 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:2,772,187...2,796,398 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 chrNW_004936472:9,227,795...9,452,936
Ensembl chrNW_004936472:9,233,576...9,452,954 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:3,861,833...3,867,943
Ensembl chrNW_004936472:3,861,866...3,867,933 		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 chrNW_004936472:12,705,804...12,856,058
Ensembl chrNW_004936472:12,705,804...12,856,048 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:8,355,075...8,366,229
Ensembl chrNW_004936472:8,354,807...8,365,399 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:3,157,508...3,548,164
Ensembl chrNW_004936472:3,212,773...3,574,114 		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 chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		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 chrNW_004936472:4,075,926...4,623,726
Ensembl chrNW_004936472:4,076,633...4,621,946 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:2,182,444...2,200,341
Ensembl chrNW_004936472:2,181,650...2,200,499 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:13,047,918...13,049,041
Ensembl chrNW_004936472:13,047,930...13,048,943 		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 chrNW_004936472:10,167,387...10,501,824
Ensembl chrNW_004936472:10,164,642...10,501,878 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:8,273,517...8,285,384
Ensembl chrNW_004936472:8,273,497...8,286,494 		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 chrNW_004936472:2,234,826...2,264,613
Ensembl chrNW_004936472:2,234,873...2,264,622 		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 chrNW_004936472:12,634,563...12,671,656
Ensembl chrNW_004936472:12,634,445...12,671,662 		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 chrNW_004936472:8,052,789...8,069,085
Ensembl chrNW_004936472:8,052,789...8,068,863 		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 chrNW_004936472:11,669,206...11,716,303
Ensembl chrNW_004936472:11,669,206...11,716,303 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:11,788,439...11,888,703
Ensembl chrNW_004936472:11,833,646...11,888,705 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:8,294,024...8,298,834
Ensembl chrNW_004936472:8,294,400...8,300,967 		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 chrNW_004936472:14,993,579...15,016,270
Ensembl chrNW_004936472:14,993,710...15,014,408 		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 chrNW_004936472:10,946,263...11,006,311
Ensembl chrNW_004936472:10,945,906...11,006,324 		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 chrNW_004936472:10,062,811...10,114,356
Ensembl chrNW_004936472:10,062,827...10,113,238 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:3,789,111...3,834,163
Ensembl chrNW_004936472:3,788,095...3,822,148 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:11,118,227...11,278,636
Ensembl chrNW_004936472:11,118,218...11,277,301 		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 chrNW_004936472:13,868,865...14,051,269
Ensembl chrNW_004936472:13,868,979...14,050,770 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:10,599,717...10,605,187
Ensembl chrNW_004936472:10,602,102...10,605,191 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004936472:10,615,843...10,623,221
Ensembl chrNW_004936472:10,616,122...10,622,338 		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 ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency OMIM
ClinVar		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936619:3,420,110...3,452,419
Ensembl chrNW_004936619:3,420,191...3,452,436 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO OMIM:300068 MouseDO NCBI chrNW_004936606:3,122,798...3,131,352
Ensembl chrNW_004936606:3,122,736...3,134,823 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chrNW_004936490:11,775,224...11,805,489
Ensembl chrNW_004936490:11,772,046...11,805,759 		JBrowse link
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936619:3,420,110...3,452,419
Ensembl chrNW_004936619:3,420,191...3,452,436 		JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 NCBI chrNW_004936558:418,998...441,637
Ensembl chrNW_004936558:418,983...444,538 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Congenital absence of testes ClinVar PMID:25741868 NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
Antley-Bixler syndrome with disordered steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		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:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G LOC101954950 aromatase ISO ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency OMIM
ClinVar		 PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		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 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss OMIM
ClinVar		 PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 More... NCBI chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome ClinVar PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 More... NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		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 chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:missense mutation:exon:4270G>C,D1424H (human) RGD PMID:12500226 RGD:6902925 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		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 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		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 chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798 		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 chrNW_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279 		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 chrNW_004936473:6,031,627...6,052,211
Ensembl chrNW_004936473:6,029,976...6,052,159 		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 chrNW_004936509:4,507,042...4,677,681
Ensembl chrNW_004936509:4,506,311...4,678,313 		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 chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 NCBI chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 ClinVar PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More... NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798 		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 | ClinVar Annotator: match by term: DVL3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More... NCBI chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 ClinVar PMID:29276006 NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798 		JBrowse link
autosomal recessive 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 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More... NCBI chrNW_004936525:8,642,744...8,774,975 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: Autosomal recessive Alport syndrome OMIM
ClinVar		 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 PMID:9792860 More... NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:15716328 RGD:5688157 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO OMIM:203780 MouseDO NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147 		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 ISO OMIM:268310 MouseDO NCBI chrNW_004936512:1,165,159...1,270,138
Ensembl chrNW_004936512:1,163,615...1,270,255 		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 OMIM
ClinVar		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More... NCBI chrNW_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279 		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:28492532 PMID:29276006 NCBI chrNW_004936538:6,966,296...6,995,691 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 chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103 		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 | ClinVar Annotator: match by term: TOP2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11152140 PMID:11476068 PMID:15521984 PMID:17576681 More... NCBI chrNW_004936473:17,146,576...17,189,589
Ensembl chrNW_004936473:17,143,894...17,189,605 		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 chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108 		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 chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194 		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: Beaulieu-Boycott-Innes syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Thoc6 THO complex subunit 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 | ClinVar Annotator: match by term: THOC6-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345 		JBrowse link
bilateral renal aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npnt nephronectin ISO MouseDO NCBI chrNW_004936814:1,096,604...1,165,755
Ensembl chrNW_004936814:1,095,974...1,165,866 		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 post translational regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar PMID:25741868 PMID:28492532 PMID:31044557 NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500 		JBrowse link
G Tp63 tumor protein p63 ISO OMIM:600057 MouseDO NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		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 Antxr1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984 		JBrowse link
G Ccdc179 coiled-coil domain containing 179 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936654:3,478,268...3,480,947
Ensembl chrNW_004936654:3,478,268...3,480,947 		JBrowse link
G Egfl6 EGF like domain multiple 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936470:3,156,593...3,215,039
Ensembl chrNW_004936470:3,156,518...3,215,990 		JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936561:5,471,113...5,477,679
Ensembl chrNW_004936561:5,471,102...5,477,813 		JBrowse link
G Epha1 EPH receptor A1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936527:833,578...847,824
Ensembl chrNW_004936527:830,112...848,512 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936476:23,783,161...23,794,646
Ensembl chrNW_004936476:23,782,977...23,794,708 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936741:881,150...901,296
Ensembl chrNW_004936741:880,736...901,468 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chrNW_004936631:3,909,046...3,915,939
Ensembl chrNW_004936631:3,911,693...3,915,560 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		JBrowse link
G Ints2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936490:3,141,258...3,196,257
Ensembl chrNW_004936490:3,141,116...3,196,291 		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 chrNW_004936480:15,805,259...15,817,854
Ensembl chrNW_004936480:15,805,247...15,817,854 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936567:1,782,056...1,860,861
Ensembl chrNW_004936567:1,781,995...1,863,461 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chrNW_004936722:1,421,396...1,427,439
Ensembl chrNW_004936722:1,419,259...1,427,497 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936471:26,635,838...26,641,877
Ensembl chrNW_004936471:26,635,106...26,642,003 		JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936514:11,231,327...11,233,292
Ensembl chrNW_004936514:11,231,305...11,233,337 		JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936580:2,257,376...2,262,026 JBrowse link
G Tcp11l1 t-complex 11 like 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936533:4,839,661...4,881,990
Ensembl chrNW_004936533:4,840,054...4,881,364 		JBrowse link
G Tmem120b transmembrane protein 120B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936558:2,635,977...2,678,466
Ensembl chrNW_004936558:2,635,978...2,678,542 		JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chrNW_004936488:9,428,053...9,560,856
Ensembl chrNW_004936488:9,427,962...9,560,685 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		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:25741868 PMID:28492532 More... NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chrNW_004936498:4,909,041...4,927,482
Ensembl chrNW_004936498:4,908,978...4,927,165 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chrNW_004936569:1,290,061...1,302,672
Ensembl chrNW_004936569:1,290,052...1,302,691 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chrNW_004936898:45,903...70,313
Ensembl chrNW_004936898:45,115...70,326 		JBrowse link
G Znf280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chrNW_004936874:597,268...619,809
Ensembl chrNW_004936874:600,210...601,847 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574 		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, TYPE II | 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 chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574 		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 chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... NCBI chrNW_004936540:1,136,403...1,137,984
Ensembl chrNW_004936540:1,136,468...1,137,574 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865 		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 chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		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 chrNW_004936510:6,366,450...6,396,056
Ensembl chrNW_004936510:6,366,846...6,393,882 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248 		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 chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705 		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 | ClinVar Annotator: match by term: MYRF-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:29446546 PMID:30070761 More... NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104 		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 | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia OMIM
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chrNW_004936557:2,677,630...2,793,478
Ensembl chrNW_004936557:2,497,710...2,793,441 		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 chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		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 chrNW_004936545:1,788,995...1,795,842
Ensembl chrNW_004936545:1,786,571...1,794,709 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chrNW_004936504:6,146,974...6,306,000
Ensembl chrNW_004936504:6,146,974...6,265,631 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 More... NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 More... NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713 		JBrowse link
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH ClinVar PMID:1406699 PMID:1406709 PMID:1496017 PMID:1644925 PMID:1864962 More... NCBI chrNW_004936727:1,550,783...1,553,327
Ensembl chrNW_004936727:1,550,783...1,553,327 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chrNW_004936549:5,212,693...5,450,195
Ensembl chrNW_004936549:5,212,834...5,448,515 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
G Ren renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497 		JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH		 RGD
ClinVar		 PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... RGD:1600070 NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672 		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... NCBI chrNW_004936727:1,492,725...1,550,762
Ensembl chrNW_004936727:1,500,200...1,550,564 		JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G LOC101954950 aromatase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 More... NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: CYP21 deficiency ClinVar PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 More... NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713 		JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: CYP21A2-related condition | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency OMIM
ClinVar		 PMID:1406699 PMID:1406709 PMID:1496017 PMID:1644925 PMID:1864962 More... NCBI chrNW_004936727:1,550,783...1,553,327
Ensembl chrNW_004936727:1,550,783...1,553,327 		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... NCBI chrNW_004936727:1,492,725...1,550,762
Ensembl chrNW_004936727:1,500,200...1,550,564 		JBrowse link
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 OMIM
ClinVar		 PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 More... NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713 		JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial 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:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		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 OMIM
ClinVar		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		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		 RGD
CTD		 PMID:12858176 RGD:1625067 NCBI chrNW_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12858176 PMID:25526675 RGD:1625067 NCBI chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		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 chrNW_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146 		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 chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975 		JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 ISO RGD PMID:24983376 PMID:32037220 RGD:13434925 RGD:38548917 NCBI chrNW_004936634:1,830,252...1,925,622
Ensembl chrNW_004936634:1,830,593...1,958,640 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451 		JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:11576231 RGD:1578685 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chrNW_004936485:18,654,046...18,707,324 JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26050606 PMID:29606031 RGD:13792609 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Chrm3 cholinergic receptor muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chrNW_004936484:13,953,141...14,373,174
Ensembl chrNW_004936484:13,954,887...13,956,659 		JBrowse link
G Esr1 estrogen receptor 1 ISO mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:29606031 RGD:13792609 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101 		JBrowse link
G Hoxd13 homeobox D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chrNW_004936470:7,927,734...7,950,805
Ensembl chrNW_004936470:7,928,095...7,933,337 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:16563141 RGD:10402928 NCBI chrNW_004936556:741,718...746,016
Ensembl chrNW_004936556:741,718...749,090 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:28492532 PMID:29452377 NCBI chrNW_004936588:384,195...387,625
Ensembl chrNW_004936588:384,195...386,820 		JBrowse link
G LOC101961662 biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chrNW_004936473:2,787,386...2,823,014 JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 More... NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chrNW_004936474:21,790,807...21,803,336
Ensembl chrNW_004936474:21,790,747...21,803,360 		JBrowse link
G Msx1 msh homeobox 1 ISO RGD PMID:18222913 RGD:5132606 NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Ngf nerve growth factor ISO mRNA,protein:decreased expression:testis RGD PMID:22490502 RGD:402463952 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chrNW_004936518:4,870,686...5,041,099
Ensembl chrNW_004936518:4,869,546...4,969,450 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chrNW_004936469:40,642,240...40,727,831
Ensembl chrNW_004936469:40,641,928...40,727,837 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 NCBI chrNW_004936472:26,425,829...26,487,700
Ensembl chrNW_004936472:26,425,951...26,487,240 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28067909 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004936513:7,218,583...7,221,085 JBrowse link
G Sts steroid sulfatase ISO protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chrNW_004936644:1,328,327...1,395,856
Ensembl chrNW_004936644:1,325,713...1,395,923 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chrNW_004936495:7,658,250...7,949,417 JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chrNW_004936474:24,788,175...24,837,471
Ensembl chrNW_004936474:24,788,195...24,837,395 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chrNW_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933 		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 chrNW_004936823:393,878...404,348
Ensembl chrNW_004936823:393,842...404,366 		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)		 OMIM
ClinVar
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:10411884 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		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 chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Dcdc1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004936533:6,559,484...6,827,979 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 chrNW_004936533:6,289,490...6,340,506
Ensembl chrNW_004936533:6,286,058...6,340,865 		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 chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145 		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 chrNW_004936533:6,216,254...6,289,554
Ensembl chrNW_004936533:6,216,225...6,289,554 		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 chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		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 chrNW_004936533:5,685,053...5,693,518 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy OMIM
ClinVar		 PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
disorder of sexual development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936588:1,342,791...1,345,746
Ensembl chrNW_004936588:1,343,085...1,345,654 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936594:3,886,926...3,902,459
Ensembl chrNW_004936594:3,893,772...3,900,000 		JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936509:8,020,525...8,204,992
Ensembl chrNW_004936509:8,020,170...8,204,871 		JBrowse link
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936512:6,885,607...6,889,955
Ensembl chrNW_004936512:6,885,607...6,889,992 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 PMID:30675029 PMID:34858435 PMID:36110220 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936485:5,532,554...5,547,430
Ensembl chrNW_004936485:5,532,853...5,546,392 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936478:7,188,826...7,202,854
Ensembl chrNW_004936478:7,188,826...7,201,932 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		JBrowse link
G Gprc6a G protein-coupled receptor class C group 6 member A ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936658:38,931...58,534
Ensembl chrNW_004936658:38,931...58,534 		JBrowse link
G Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936487:228,301...282,495
Ensembl chrNW_004936487:228,557...245,295 		JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936567:584,443...595,045
Ensembl chrNW_004936567:584,443...586,837 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22615892 NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G LOC101965545 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936485:3,917,060...5,859,527
Ensembl chrNW_004936485:3,919,525...5,859,251 		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 chrNW_004936805:882,296...886,442
Ensembl chrNW_004936805:882,273...886,475 		JBrowse link
G Mamld1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936714:1,941,974...2,042,246
Ensembl chrNW_004936714:1,951,966...2,042,394 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936480:11,082,811...11,156,691
Ensembl chrNW_004936480:11,083,605...11,156,691 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:28492532 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936603:3,299,736...3,419,539
Ensembl chrNW_004936603:3,299,736...3,310,011 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936739:1,854,072...1,856,657
Ensembl chrNW_004936739:1,854,072...1,856,657 		JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936472:26,425,829...26,487,700
Ensembl chrNW_004936472:26,425,951...26,487,240 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936504:11,907,667...11,922,487
Ensembl chrNW_004936504:11,907,681...11,922,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 More... NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chrNW_004936475:26,342,245...27,209,563
Ensembl chrNW_004936475:26,342,220...27,208,711 		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 ClinVar Annotator: match by term: Cryptophthalmos with other malformations ClinVar PMID:12766769 PMID:16199547 PMID:18671281 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO OMIM:219000 MouseDO NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Cryptophthalmos with other malformations ClinVar PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM:219000 MouseDO NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		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 ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 More... NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 More... NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		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 ISO ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 OMIM
ClinVar		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 More... NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514 		JBrowse link
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 chrNW_004936521:7,951,176...8,025,666
Ensembl chrNW_004936521:7,952,365...8,025,614 		JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:24426771 PMID:28492532 NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936560:3,681,145...3,711,831
Ensembl chrNW_004936560:3,680,657...3,712,004 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936595:1,417,718...1,420,480
Ensembl chrNW_004936595:1,418,435...1,419,511 		JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073 		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 chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936474:18,822,317...18,825,158
Ensembl chrNW_004936474:18,822,327...18,825,114 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004937067:14...41,438
Ensembl chrNW_004937067:849...41,298 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936489:16,179,321...16,181,991
Ensembl chrNW_004936489:16,179,810...16,184,020 		JBrowse link
G Myo18b myosin XVIIIB ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936657:551,535...764,247 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 chrNW_004936664:2,439,434...2,464,878
Ensembl chrNW_004936664:2,439,426...2,465,094 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936677:167,324...197,860
Ensembl chrNW_004936677:167,324...196,188 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936538:7,038,799...7,049,428
Ensembl chrNW_004936538:7,041,973...7,049,432 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Fraser syndrome 3 ClinVar NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		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:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,316,550...4,326,022
Ensembl chrNW_004936562:4,314,870...4,326,000 		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 chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671 		JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,560,078...5,023,780
Ensembl chrNW_004936521:4,557,971...5,023,800 		JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:5,023,896...5,050,822 JBrowse link
G Comtd1 catechol-O-methyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,116,893...4,121,782
Ensembl chrNW_004936521:4,116,995...4,120,184 		JBrowse link
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:1,649,557...1,753,149
Ensembl chrNW_004936521:1,649,575...1,753,073 		JBrowse link
G Dusp13b dual specificity phosphatase 13B ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,232,678...4,245,199
Ensembl chrNW_004936521:4,232,565...4,245,323 		JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,267,619...4,305,481
Ensembl chrNW_004936521:4,267,613...4,305,563 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders OMIM
ClinVar		 PMID:9536098 PMID:12210329 PMID:12210330 PMID:16199547 PMID:16761293 More... NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:2,000,113...2,706,010
Ensembl chrNW_004936521:2,000,109...2,705,365 		JBrowse link
G Lgi1 leucine rich glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chrNW_004936601:1,242,022...1,275,842
Ensembl chrNW_004936601:1,239,771...1,275,850 		JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:2,959,770...3,637,431
Ensembl chrNW_004936521:2,959,844...3,946,191 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:1,570,863...1,613,410
Ensembl chrNW_004936521:1,570,857...1,614,409 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:1,562,013...1,568,280
Ensembl chrNW_004936521:1,561,992...1,568,280 		JBrowse link
G Samd8 sterile alpha motif domain containing 8 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,170,016...4,229,877
Ensembl chrNW_004936521:4,169,979...4,229,890 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004936521:5,051,077...5,163,036
Ensembl chrNW_004936521:5,050,900...5,163,086 		JBrowse link
G Vdac2 voltage dependent anion channel 2 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:4,122,447...4,136,228
Ensembl chrNW_004936521:4,122,270...4,136,380 		JBrowse link
G Znf503 zinc finger protein 503 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004936521:3,982,447...3,986,867
Ensembl chrNW_004936521:3,982,929...3,985,580 		JBrowse link
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r12a protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome | ClinVar Annotator: match by term: PPP1R12A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31349857 PMID:31883643 NCBI chrNW_004936698:811,399...948,631
Ensembl chrNW_004936698:817,943...948,368 		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 chrNW_004936594:3,886,926...3,902,459
Ensembl chrNW_004936594:3,893,772...3,900,000 		JBrowse link
G Dmrt2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chrNW_004936503:3,857,165...3,864,130
Ensembl chrNW_004936503:3,857,165...3,864,147 		JBrowse link
G Fmr1 Fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chrNW_004936513:1,290,038...1,327,850
Ensembl chrNW_004936513:1,289,558...1,327,856 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 treatment ISO RGD PMID:16467257 RGD:12904919 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		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 chrNW_004936824:857,696...860,604
Ensembl chrNW_004936824:859,235...860,503 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:25741868 NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		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 chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		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 without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome		 OMIM
ClinVar		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123 		JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277 		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 chrNW_004936552:7,204,298...7,212,632 JBrowse link
hand-foot-genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeobox A13 ISO ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome OMIM
ClinVar		 PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 More... NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277 		JBrowse link
G Hoxa9 homeobox A9 ISO ClinVar Annotator: match by term: Hand-foot-genital syndrome ClinVar NCBI chrNW_004936478:3,789,961...3,793,116
Ensembl chrNW_004936478:3,789,961...3,793,845 		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 chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743 		JBrowse link
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 More... NCBI chrNW_004936727:1,550,783...1,553,327
Ensembl chrNW_004936727:1,550,783...1,553,327 		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: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chrNW_004936644:722,849...839,723
Ensembl chrNW_004936644:723,473...837,320 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,258,088...1,296,346
Ensembl chrNW_004936710:1,257,931...1,298,885 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,489,483...1,519,469
Ensembl chrNW_004936710:1,489,522...1,518,849 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,551,729...1,575,393
Ensembl chrNW_004936710:1,551,738...1,575,393 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,296,475...1,301,752
Ensembl chrNW_004936710:1,293,129...1,301,048 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,446,030...1,461,945 JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		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 | ClinVar Annotator: match by term: Kallmann syndrome 2 OMIM
ClinVar		 PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 More... NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,388,743...1,393,791
Ensembl chrNW_004936710:1,388,743...1,393,758 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:2,280,804...2,292,399
Ensembl chrNW_004936710:2,280,714...2,292,468 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,736,010...1,758,480
Ensembl chrNW_004936710:1,736,721...1,758,693 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,629,178...1,732,827
Ensembl chrNW_004936710:1,631,234...1,732,827 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:2,210,683...2,280,522
Ensembl chrNW_004936710:2,223,941...2,276,792 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,216,142...1,236,559
Ensembl chrNW_004936710:1,216,104...1,238,153 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,619,975...1,625,426
Ensembl chrNW_004936710:1,620,012...1,624,737 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chrNW_004936485:13,620,000...13,632,134
Ensembl chrNW_004936485:13,619,835...13,632,881 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,306,430...1,338,502 JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:2,042,671...2,157,249 JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chrNW_004936710:2,298,233...2,301,239
Ensembl chrNW_004936710:2,297,247...2,301,232 		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 | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chrNW_004936485:13,620,000...13,632,134
Ensembl chrNW_004936485:13,619,835...13,632,881 		JBrowse link
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chrNW_004936603:3,299,736...3,419,539
Ensembl chrNW_004936603:3,299,736...3,310,011 		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:15845591 PMID:16764984 PMID:16882753 RGD:11567239 RGD:11567240 RGD:11567241 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO mRNA:decreased expression:mucosa of urethra RGD PMID:15472213 PMID:23386417 RGD:11576230 RGD:1578685 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chrNW_004936557:909,302...922,619
Ensembl chrNW_004936557:908,318...922,624 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153 PMID:27098078 NCBI chrNW_004936721:1,804,746...1,934,854
Ensembl chrNW_004936721:1,804,746...1,934,527 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) RGD PMID:17579196 RGD:1626506 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO RGD PMID:19464577 RGD:2314151 NCBI chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:19464577 RGD:2314151 NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G Fscn3 fascin actin-bundling protein 3 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936479:14,794,876...14,803,549
Ensembl chrNW_004936479:14,795,129...14,801,401 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011 		JBrowse link
G Hhip hedgehog interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930 		JBrowse link
G Hoxa13 homeobox A13 ISO mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chrNW_004936478:3,824,715...3,827,277
Ensembl chrNW_004936478:3,824,715...3,827,277 		JBrowse link
G Hoxd13 homeobox D13 ISO mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G LOC101969148 cytochrome P450 1A1 no_association ISO RGD PMID:15579657 PMID:21300689 RGD:11576312 RGD:11576313 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G Mamld1 mastermind like domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559465 NCBI chrNW_004936714:1,941,974...2,042,246
Ensembl chrNW_004936714:1,951,966...2,042,394 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO protein:decreased expression:urethra RGD PMID:32413360 RGD:156431051 NCBI chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671 		JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:blood RGD PMID:37059017 RGD:401795478 NCBI chrNW_004936598:1,719,501...1,720,890
Ensembl chrNW_004936598:1,719,480...1,720,911 		JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936479:14,848,438...15,259,735
Ensembl chrNW_004936479:14,848,463...15,260,014 		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 chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936498:4,909,041...4,927,482
Ensembl chrNW_004936498:4,908,978...4,927,165 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chrNW_004936531:7,273,681...7,279,394
Ensembl chrNW_004936531:7,273,882...7,278,959 		JBrowse link
Hypospadias 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked ClinVar
OMIM		 PMID:2594783 PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
Hypospadias 2, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mamld1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias 2, X-linked OMIM
ClinVar		 PMID:17086185 PMID:20347055 PMID:25741868 PMID:28492532 PMID:32690052 More... NCBI chrNW_004936714:1,941,974...2,042,246
Ensembl chrNW_004936714:1,951,966...2,042,394 		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 | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chrNW_004936794:1,023,891...1,025,470 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: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852 		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 PMID:25741868 PMID:28492532 NCBI chrNW_004936553:6,436,371...6,440,141
Ensembl chrNW_004936553:6,436,371...6,440,141 		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 chrNW_004936644:722,849...839,723
Ensembl chrNW_004936644:723,473...837,320 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796 		JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936603:3,299,736...3,419,539
Ensembl chrNW_004936603:3,299,736...3,310,011 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Anosmic hypogonadism ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chrNW_004936485:13,620,000...13,632,134
Ensembl chrNW_004936485:13,619,835...13,632,881 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chrNW_004936531:9,518,719...9,525,195
Ensembl chrNW_004936531:9,519,087...9,525,123 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chrNW_004936471:18,223,221...18,576,922 JBrowse link
G Wdr11 WD repeat domain 11 ISO MouseDO NCBI chrNW_004936486:10,007,728...10,061,640
Ensembl chrNW_004936486:10,007,715...10,064,327 		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:17576681 PMID:18834967 PMID:22461308 PMID:25741868 More... NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
Kallmann Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Kallmann syndrome 6 ClinVar PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
Klinefelter syndrome 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 ClinVar PMID:25741868 NCBI chrNW_004936644:722,849...839,723
Ensembl chrNW_004936644:723,473...837,320 		JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chrNW_004936509:8,020,525...8,204,992
Ensembl chrNW_004936509:8,020,170...8,204,871 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More... NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		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 PMID:28492532 More... NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... NCBI chrNW_004936582:749,016...765,189
Ensembl chrNW_004936582:749,016...765,189 		JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936469:43,039,494...43,086,041
Ensembl chrNW_004936469:43,039,488...43,087,768 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936588:384,195...387,625
Ensembl chrNW_004936588:384,195...386,820 		JBrowse link
G Nhlh2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chrNW_004936627:1,130,064...1,135,092
Ensembl chrNW_004936627:1,131,807...1,135,012 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chrNW_004936762:435,729...458,261
Ensembl chrNW_004936762:435,729...458,423 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		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 chrNW_004936492:8,415,997...8,544,149
Ensembl chrNW_004936492:8,415,997...8,541,762 		JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936478:14,614,635...14,972,204 JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936603:3,299,736...3,419,539
Ensembl chrNW_004936603:3,299,736...3,310,011 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936529:1,704,523...1,733,465
Ensembl chrNW_004936529:1,704,476...1,733,941 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004936504:11,907,667...11,922,487
Ensembl chrNW_004936504:11,907,681...11,922,469 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:20887964 PMID:25741868 PMID:28492532 NCBI chrNW_004936486:10,007,728...10,061,640
Ensembl chrNW_004936486:10,007,715...10,064,327 		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 OMIM
ClinVar		 PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 More... NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		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 ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I ClinVar PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		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 chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
Lipoid Congenital Adrenal Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975820 cholesterol side-chain cleavage enzyme, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764 		JBrowse link
G LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism ClinVar PMID:1406699 PMID:1406709 PMID:1496017 PMID:8989258 PMID:10323382 More... NCBI chrNW_004936727:1,550,783...1,553,327
Ensembl chrNW_004936727:1,550,783...1,553,327 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism | ClinVar Annotator: match by term: STAR-related condition OMIM
ClinVar		 PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672 		JBrowse link
Lubs 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: Type I familial incomplete male pseudohermaphroditism ClinVar PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
Mayer-Rokitansky-Kuster-Hauser 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: Aplasia of the uterus ClinVar PMID:25741868 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32378186 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664 		JBrowse link
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
Mayer-Rokitansky-Kuster-Hauser syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina ClinVar PMID:25741868 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
Meacham Winn Culler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome OMIM
ClinVar		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101960314 cytochrome b5 ISO ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 OMIM
ClinVar		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 NCBI chrNW_004936616:4,176,576...4,210,276 JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:25081361 PMID:25741868 PMID:25741916 PMID:26633546 PMID:27480277 More... NCBI chrNW_004936641:980,493...986,015
Ensembl chrNW_004936641:980,533...984,506 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233 		JBrowse link
Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism OMIM
ClinVar		 PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 More... NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664 		JBrowse link
Multicystic Dysplastic Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613 		JBrowse link
G Scaf4 SR-related CTD associated factor 4 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar NCBI chrNW_004936500:10,307,868...10,342,952
Ensembl chrNW_004936500:10,307,835...10,342,588 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome 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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar		 PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
NFIA-related disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I A ISO ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related condition | ClinVar Annotator: match by term: NFIA-related disorder OMIM
ClinVar		 PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More... NCBI chrNW_004936522:612,357...1,171,079
Ensembl chrNW_004936522:615,012...957,282 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chrNW_004936470:414,420...576,717
Ensembl chrNW_004936470:414,409...576,669 		JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar		 PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chrNW_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706 		JBrowse link
Ovarian Dysgenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim7 zinc finger SWIM-type containing 7 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 10 OMIM
ClinVar		 PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 NCBI chrNW_004936821:567,397...582,177
Ensembl chrNW_004936821:567,439...582,458 		JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 OMIM
ClinVar		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chrNW_004936873:109,156...115,498 JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chrNW_004936490:17,323,137...17,327,774
Ensembl chrNW_004936490:17,323,919...17,328,485 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chrNW_004936508:1,889,640...2,954,039 JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chrNW_004936490:17,328,195...17,333,700
Ensembl chrNW_004936490:17,328,494...17,333,657 		JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar		 PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 NCBI chrNW_004936658:1,657,226...1,734,150 JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar		 PMID:17301727 PMID:25741868 PMID:25774885 NCBI chrNW_004936669:1,901,892...1,912,184 JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 6 OMIM
ClinVar		 PMID:25741868 PMID:26485283 PMID:28492532 NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870 		JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865 		JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar		 PMID:30113650 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
Ovarian Dysgenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Ovarian dysgenesis 9 OMIM
ClinVar		 PMID:25741868 PMID:27967308 PMID:34697795 NCBI chrNW_004936590:4,921,755...5,041,573
Ensembl chrNW_004936590:4,921,542...5,316,195 		JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726 		JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal OMIM
ClinVar		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726 		JBrowse link
partial androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome OMIM
ClinVar		 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chrNW_004936588:3,723,188...3,728,037
Ensembl chrNW_004936588:3,722,941...3,731,439 		JBrowse link
G Eral1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chrNW_004936538:5,048,385...5,059,607
Ensembl chrNW_004936538:5,048,328...5,053,735 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chrNW_004936600:4,691,112...4,696,523
Ensembl chrNW_004936600:4,691,104...4,696,507 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chrNW_004936588:3,723,188...3,728,037
Ensembl chrNW_004936588:3,722,941...3,731,439 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chrNW_004936588:3,723,188...3,728,037
Ensembl chrNW_004936588:3,722,941...3,731,439 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chrNW_004936600:4,691,112...4,696,523
Ensembl chrNW_004936600:4,691,104...4,696,507 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eral1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chrNW_004936538:5,048,385...5,059,607
Ensembl chrNW_004936538:5,048,328...5,053,735 		JBrowse link
persistent Mullerian duct syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I OMIM
ClinVar		 PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 More... NCBI chrNW_004936588:1,342,791...1,345,746
Ensembl chrNW_004936588:1,343,085...1,345,654 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II OMIM
ClinVar		 PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 More... NCBI chrNW_004936512:10,706,043...10,712,797
Ensembl chrNW_004936512:10,705,350...10,713,517 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369 		JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108 		JBrowse link
pseudohermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 More... NCBI chrNW_004936487:228,301...282,495
Ensembl chrNW_004936487:228,557...245,295 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 More... NCBI chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 OMIM
ClinVar		 PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:18384427 PMID:28492532 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		JBrowse link
renal agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicc1 BicC family RNA binding protein 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936614:4,211,090...4,484,862
Ensembl chrNW_004936614:4,211,083...4,484,868 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:29290337 PMID:31680349 NCBI chrNW_004936662:1,329,646...1,526,610
Ensembl chrNW_004936662:1,330,446...1,526,633 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11119745 NCBI chrNW_004936589:1,565,933...1,719,208 JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936648:395,526...546,705
Ensembl chrNW_004936648:395,524...546,729 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
G Ift25 intraflagellar transport 25 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar NCBI chrNW_004936522:7,188,752...7,214,926
Ensembl chrNW_004936522:7,188,716...7,216,297 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936574:5,985,181...6,155,067
Ensembl chrNW_004936574:5,984,939...6,155,164 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: RENAL APLASIA | ClinVar Annotator: match by term: Urogenital adysplasia, hereditary ClinVar PMID:7704557 PMID:8797874 PMID:9452077 PMID:9606292 PMID:10076558 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar PMID:25741868 PMID:29194579 NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004936513:7,218,583...7,221,085 JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Renal agenesis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chrNW_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: RENAL APLASIA | ClinVar Annotator: match by term: Urogenital adysplasia, hereditary ClinVar PMID:15888565 PMID:25741868 PMID:28492532 NCBI chrNW_004936629:4,421,977...4,427,783
Ensembl chrNW_004936629:4,421,966...4,427,312 		JBrowse link
Renal Hypodysplasia/Aplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Renal agenesis and hypodysplasia ClinVar PMID:28492532 PMID:29100090 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 OMIM
ClinVar		 PMID:24439109 PMID:24700879 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chrNW_004936574:5,985,181...6,155,067
Ensembl chrNW_004936574:5,984,939...6,155,164 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 1 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 ClinVar PMID:2639553 PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 ClinVar PMID:15888565 PMID:25741868 PMID:27657687 PMID:28492532 NCBI chrNW_004936629:4,421,977...4,427,783
Ensembl chrNW_004936629:4,421,966...4,427,312 		JBrowse link
Renal Hypodysplasia/Aplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf20 fibroblast growth factor 20 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 OMIM
ClinVar		 PMID:22698282 PMID:25741868 PMID:28492532 NCBI chrNW_004936573:6,055,261...6,062,764
Ensembl chrNW_004936573:6,055,261...6,062,764 		JBrowse link
Renal Hypodysplasia/Aplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28739660 PMID:29100090 PMID:29100091 More... NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
Renal Hypodysplasia/Aplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 OMIM
ClinVar		 PMID:25741868 PMID:33020172 PMID:34737117 NCBI chrNW_004936486:6,066,108...6,262,055
Ensembl chrNW_004936486:6,071,023...6,262,165 		JBrowse link
Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISO MouseDO NCBI chrNW_004936471:16,911,575...16,960,521
Ensembl chrNW_004936471:16,912,155...16,960,468 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936473:6,031,627...6,052,211
Ensembl chrNW_004936473:6,029,976...6,052,159 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome OMIM
ClinVar		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chrNW_004936550:5,581,982...5,771,090 JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101954950 aromatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar		 PMID:25741868 PMID:29228025 NCBI chrNW_004936475:18,198,725...18,204,257
Ensembl chrNW_004936475:18,198,733...18,203,963 		JBrowse link
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: Skeletal defects, genital hypoplasia, and mental retardation ClinVar PMID:11891687 PMID:18611983 NCBI chrNW_004936612:389,877...570,595
Ensembl chrNW_004936612:395,177...570,595 		JBrowse link
Structural Heart Defects and Renal Anomalies Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem260 transmembrane protein 260 ISO ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus OMIM
ClinVar		 PMID:25741868 PMID:28318500 PMID:28492532 PMID:32860008 PMID:34612517 NCBI chrNW_004936495:1,229,644...1,298,689
Ensembl chrNW_004936495:1,229,418...1,294,269 		JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM
ClinVar		 PMID:8818947 PMID:18297069 PMID:25741868 NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies OMIM
ClinVar		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Cdkn3 cyclin dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:669,154...684,077
Ensembl chrNW_004936697:670,785...683,996 		JBrowse link
G Cgrrf1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:573,477...605,899
Ensembl chrNW_004936697:569,148...605,945 		JBrowse link
G Cnih1 cornichon family member 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:652,562...668,998
Ensembl chrNW_004936697:652,568...668,998 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:232,048...275,420 JBrowse link
G Gmfb glia maturation factor beta ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:613,535...627,906
Ensembl chrNW_004936697:613,547...625,438 		JBrowse link
G Samd4a sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004936697:332,577...543,748
Ensembl chrNW_004936697:336,981...541,150 		JBrowse link
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 More... NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588 RGD:12743598 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G LOC101969021 somatotropin ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chrNW_004936762:1,425,337...1,652,058
Ensembl chrNW_004936762:1,425,335...1,652,063 		JBrowse link
G Las1l LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Wilson-Turner syndrome OMIM
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chrNW_004936635:2,560,586...2,580,309
Ensembl chrNW_004936635:2,560,471...2,581,785 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chrNW_004936635:2,580,693...2,690,297
Ensembl chrNW_004936635:2,588,510...2,641,616 		JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg4a autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chrNW_004936499:6,641,192...6,691,685
Ensembl chrNW_004936499:6,640,957...6,691,995 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM
ClinVar		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chrNW_004936499:6,421,930...6,640,429
Ensembl chrNW_004936499:6,362,295...6,639,047 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chrNW_004936573:5,345,282...5,391,946
Ensembl chrNW_004936573:5,328,526...5,388,901 		JBrowse link
G Zc3h12c zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chrNW_004936612:4,076,155...4,138,227
Ensembl chrNW_004936612:4,076,205...4,137,860 		JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        Urogenital Abnormalities 414
          Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
          Alport syndrome + 15
          Antley-Bixler syndrome with disordered steroidogenesis 2
          Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
          B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
          Beaulieu-Boycott-Innes Syndrome 2
          Bifid or Double Ureter 0
          Calabro Syndrome 0
          Cardiac-Urogenital Syndrome 1
          DK Phocomelia Syndrome 0
          Duker Weiss Siber syndrome 0
          Epispadias + 30
          Fraser syndrome + 19
          Fused Kidney 1
          GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
          Genitopatellar Syndrome 17
          IMAGEI Syndrome 1
          IMAGe syndrome 1
          Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
          Microcephaly Seizures Genital Hypoplasia 0
          Multicystic Dysplastic Kidney + 7
          Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
          Myotubular Myopathy with Abnormal Genital Development 0
          Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
          Omphalocele Exstrophy Imperforate Anus 0
          Piepkorn Karp Hickok syndrome 0
          Pyelectasis 0
          Renal Dysplasia - Limb Defects Syndrome 0
          Renal, Genital, and Middle Ear Anomalies 0
          Retrocaval Ureter 0
          Robinow syndrome + 9
          Rosselli-Gulienetti Syndrome 0
          Short Stature and Microcephaly with Genital Anomalies 1
          Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
          Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
          Structural Heart Defects and Renal Anomalies Syndrome 1
          Urinary Fistula + 0
          Urinary Tract Abnormalities + 1
          Uterine Anomalies 0
          X-linked lissencephaly 2 1
          acrocardiofacial syndrome 0
          blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
          corpus callosum agenesis-abnormal genitalia syndrome 1
          disorder of sexual development + 216
          hand-foot-genital syndrome 2
          hypospadias + 81
          popliteal pterygium syndrome + 3
          renal agenesis + 20
          syndactyly-telecanthus-anogenital and renal malformations syndrome 1
          syndromic microphthalmia 6 7
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Urogenital Abnormalities 414
            Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
            Alport syndrome + 15
            Antley-Bixler syndrome with disordered steroidogenesis 2
            Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
            B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
            Beaulieu-Boycott-Innes Syndrome 2
            Bifid or Double Ureter 0
            Calabro Syndrome 0
            Cardiac-Urogenital Syndrome 1
            DK Phocomelia Syndrome 0
            Duker Weiss Siber syndrome 0
            Epispadias + 30
            Fraser syndrome + 19
            Fused Kidney 1
            GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
            Genitopatellar Syndrome 17
            IMAGEI Syndrome 1
            IMAGe syndrome 1
            Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
            Microcephaly Seizures Genital Hypoplasia 0
            Multicystic Dysplastic Kidney + 7
            Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
            Myotubular Myopathy with Abnormal Genital Development 0
            Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
            Omphalocele Exstrophy Imperforate Anus 0
            Piepkorn Karp Hickok syndrome 0
            Pyelectasis 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Renal, Genital, and Middle Ear Anomalies 0
            Retrocaval Ureter 0
            Robinow syndrome + 9
            Rosselli-Gulienetti Syndrome 0
            Short Stature and Microcephaly with Genital Anomalies 1
            Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
            Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
            Structural Heart Defects and Renal Anomalies Syndrome 1
            Urinary Fistula + 0
            Urinary Tract Abnormalities + 1
            Uterine Anomalies 0
            X-linked lissencephaly 2 1
            acrocardiofacial syndrome 0
            blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
            corpus callosum agenesis-abnormal genitalia syndrome 1
            disorder of sexual development + 216
            hand-foot-genital syndrome 2
            hypospadias + 81
            popliteal pterygium syndrome + 3
            renal agenesis + 20
            syndactyly-telecanthus-anogenital and renal malformations syndrome 1
            syndromic microphthalmia 6 7
paths to the root