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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:disorder of sexual development
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Accession:DOID:1923 term browser browse the term
Definition:A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. (DO)
Synonyms:exact_synonym: Disorders of Sex Development;   Genital Ambiguity;   Intersex Condition;   Intersexualities;   Intersexuality;   Sex Differentiation Disorder;   ambiguous genitalia;   disorder of sexual differentiation;   disorders of sexual development;   genital ambiguities;   intersex conditions;   sex development disorder;   sex development disorders;   sex differentiation disease;   sex differentiation disorders;   sexual development disorder;   sexual development disorders;   sexual differentiation disorder;   sexual differentiation disorders
 primary_id: MESH:D012734
 xref: NCI:C103186
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
disorder of sexual development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C3 aldo-keto reductase family 1 member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812 		JBrowse link
G AMH anti-Mullerian hormone susceptibility ISO Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon RGD PMID:1483695 RGD:1601180 NCBI chr19:1,260,219...1,263,395 JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729 		JBrowse link
G CBX2 chromobox 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545 		JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr2B:66,086,654...66,307,309 JBrowse link
G DHH desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		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 chr  X:143,799,088...143,825,282 JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr20:14,294,903...14,310,584
Ensembl chr20:14,281,522...14,283,471 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		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 chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		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 chr 6:114,601,360...114,638,286
Ensembl chr 6:118,744,929...118,781,099 		JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 9:67,327,047...67,411,754
Ensembl chr 9:95,451,031...95,522,739 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22615892 NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
G LOC100990437 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 chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530 		JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr20:13,966,338...16,020,506
Ensembl chr20:13,950,260...15,997,806 		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 chr15:6,017,523...6,021,849
Ensembl chr15:21,134,857...21,138,576 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr  X:140,009,726...140,163,667
Ensembl chr  X:149,945,753...150,098,431 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 PMID:31513305 PMID:31852928 PMID:35432193 More... NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167 		JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 3:71,711,334...71,724,865
Ensembl chr 3:73,068,599...73,080,897 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 5:173,086,726...173,090,461 JBrowse link
G RXFP2 relaxin family peptide receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr13:12,998,696...13,062,548
Ensembl chr13:31,434,379...31,496,736 		JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 6:21,422,846...21,427,779 JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 5:137,667,280...137,683,578
Ensembl chr 5:143,778,785...143,791,939 		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 chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546 		JBrowse link
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | ClinVar Annotator: match by term: CYP17A1-related condition ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		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 chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM
ClinVar		 PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr 9:67,327,047...67,411,754
Ensembl chr 9:95,451,031...95,522,739 		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 | ClinVar Annotator: match by term: COLEC11-related condition OMIM
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr2A:3,610,679...3,659,739
Ensembl chr2A:3,529,358...3,579,517 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196 		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 chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676 		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 chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496 		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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258 		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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		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 chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269 		JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: 46,XX disorder of sex development ClinVar NCBI chr15:20,499,789...20,520,152
Ensembl chr15:38,739,509...38,760,288 		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 chr 5:5,470,841...5,651,360
Ensembl chr 5:5,150,365...5,329,556 		JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar PMID:25741868 NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
G LOC100990437 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530 		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 chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		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 chr15:75,008,879...75,021,981 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:25989977 PMID:26260161 More... NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		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 chr16:604,366...605,560 JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:28492532 NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312 		JBrowse link
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:8353496 PMID:25741868 PMID:29378242
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar		 PMID:25741868
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM		 PMID:21208124 PMID:22051515 NCBI chr17:66,028,737...66,034,122 JBrowse link
46,XX sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar		 PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		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 chr15:75,008,879...75,021,981 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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome | ClinVar Annotator: match by term: WNT4-related condition OMIM
ClinVar		 PMID:18179883 PMID:25741868 PMID:28492532 NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801 		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 chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123 		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 chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 PMID:33189935 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		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 chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 PMID:11932325 PMID:15070943 NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		JBrowse link
G SRY sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:2247151 PMID:8257986 PMID:27576690 RGD:1598780 RGD:1599179
46,XY sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XY sex reversal 1 OMIM
ClinVar		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More...
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar
OMIM		 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr17:66,028,737...66,034,122 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 chr  X:22,903,403...22,908,527
Ensembl chr  X:30,459,527...30,464,652 		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 chr 8:7,442,921...7,526,731 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 chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		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 chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656 		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 | ClinVar Annotator: match by term: CBX2-related condition OMIM
ClinVar		 PMID:19361780 PMID:25741868 PMID:28492532 NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545 		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 chr 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959 		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 chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123 		JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1C4 aldo-keto reductase family 1 member C4 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8 | ClinVar Annotator: match by term: AKR1C4-related condition OMIM
ClinVar		 PMID:4352099 PMID:21802064 PMID:25741868 PMID:28492532 NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201 		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 chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
46,Xy True Hermaphroditism, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related ClinVar PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 More...
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY | ClinVar Annotator: match by term: HSD3B2-related condition OMIM
ClinVar		 PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More... NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124 		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 Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003 		JBrowse link
G TAF6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr 7:92,142,646...92,154,951
Ensembl chr 7:105,575,861...105,588,142 		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 susceptibility ISO ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar
OMIM		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar PMID:28492532 NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		JBrowse link
G FKBP4 FKBP prolyl isomerase 4 ISO OMIM:300068 MouseDO NCBI chr12:2,915,017...2,924,423
Ensembl chr12:2,847,496...2,856,107 		JBrowse link
G KAT7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr17:43,875,921...43,916,352
Ensembl chr17:48,605,488...48,645,784 		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 chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:28492532 NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		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:30582406 PMID:31287541 More... NCBI chr12:122,539,236...122,582,819
Ensembl chr12:126,823,006...126,865,933 		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 chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: CYP19A1-related condition | 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 chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Aromatase deficiency ClinVar PMID:25741868 NCBI chr15:30,285,743...30,352,403
Ensembl chr15:48,619,452...48,685,616 		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 chr22:26,390,379...26,488,737
Ensembl chr22:44,582,843...44,666,011 		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 chr17:66,028,737...66,034,122 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: HHAT-related condition OMIM
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr 1:185,885,604...186,231,857
Ensembl chr 1:190,755,249...191,100,284 		JBrowse link
complete 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: Complete androgen insensitivity syndrome ClinVar PMID:25741868 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		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 chr12:25,793,633...25,803,026
Ensembl chr12:26,065,882...26,075,972 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 More... NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 More... NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 More... NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124 		JBrowse link
G HTR4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357 		JBrowse link
G LOC100990437 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 chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530 		JBrowse link
G LOC100992963 tenascin-X ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 More... NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155 		JBrowse link
G PDE8B phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 5:37,874,089...38,121,322
Ensembl chr 5:38,402,790...38,617,743 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
G REN renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		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 chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544 		JBrowse link
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency OMIM
ClinVar		 PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More... NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO ClinVar Annotator: match by term: P450c11b1 deficiency ClinVar PMID:11549691 NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575 		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 CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 More... NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: CYP21 deficiency ClinVar PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 More... NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G LOC100990437 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 chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530 		JBrowse link
G LOC100992963 tenascin-X 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 chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31660093 More... NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 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 chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | 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 chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164 		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 chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:insertion,transversion:intron:86557insA, 83597T>G (human)		 CTD
RGD		 PMID:12858176 PMID:25526675 RGD:1625067 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765 		JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631 		JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2 | ClinVar Annotator: match by term: HSD11B1-related condition OMIM
ClinVar		 PMID:21325058 PMID:25741868 PMID:28492532 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765 		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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870 		JBrowse link
G ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 ISO RGD PMID:24983376 PMID:32037220 RGD:13434925 RGD:38548917 NCBI chr 5:5,470,841...5,651,360
Ensembl chr 5:5,150,365...5,329,556 		JBrowse link
G ANXA5 annexin A5 ISO protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G AR androgen receptor ISO DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:11576231 RGD:1578685 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486 		JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497 		JBrowse link
G CASP3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26050606 PMID:29606031 RGD:13792609 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185 		JBrowse link
G CBL Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr 1:214,931,514...215,452,739 JBrowse link
G ESR1 estrogen receptor 1 ISO mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:29606031 RGD:13792609 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr19:20,904...23,828 JBrowse link
G HOXD13 homeobox D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr2B:63,372,517...63,375,731 JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO RGD PMID:16563141 RGD:10402928 NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr12:342,555...452,161
Ensembl chr12:319,273...423,634 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 NCBI chr19:211,563...215,332 JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr 8:37,465,986...37,479,186
Ensembl chr 8:34,642,938...34,656,142 		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 chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438 		JBrowse link
G MSX1 msh homeobox 1 ISO RGD PMID:18222913 RGD:5132606 Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G NFKBIA NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NGF nerve growth factor ISO mRNA,protein:decreased expression:testis RGD PMID:22490502 RGD:402463952 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		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 chr13:12,998,696...13,062,548
Ensembl chr13:31,434,379...31,496,736 		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 chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		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 chr  X:129,654,296...129,656,446 JBrowse link
G STS steroid sulfatase ISO protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 Ensembl chr  X:7,047,017...7,207,540 JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456 		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 chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794 		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 chr 7:2,797,551...2,815,847
Ensembl chr 7:2,892,302...2,910,143 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 More... NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		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: D-bifunctional protein 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 chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860 		JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		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 chr11:30,837,264...31,333,462
Ensembl chr11:30,755,366...31,181,807 		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 chr11:31,333,447...31,396,852
Ensembl chr11:31,223,109...31,286,055 		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 chr11:31,473,439...31,754,446 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 chr11:31,396,011...31,473,342
Ensembl chr11:31,285,619...31,362,843 		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 chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		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 chr11:32,054,917...32,069,524 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:1655284 PMID:1658787 More... NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 chr11:44,219,865...44,269,597 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 chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545 		JBrowse link
G DMRT2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 9:860,271...867,704
Ensembl chr 9:1,055,473...1,060,962 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:136,937,889...136,976,828
Ensembl chr  X:147,365,748...147,405,321 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:10022448 PMID:22414334 PMID:28492532 NCBI chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 treatment ISO RGD PMID:16467257 RGD:12904919 NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292 		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 chr 6:114,079,317...114,082,540
Ensembl chr 6:118,226,765...118,228,081 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:25741868 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		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 chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		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 chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		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 chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829 		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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		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 chr  X:1,035,112...1,235,112
Ensembl chr  X:8,396,290...8,598,406 		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 chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192 		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 chr 8:37,098,486...37,144,437
Ensembl chr 8:34,276,267...34,321,836 		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 chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949 		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 chr 8:37,408,151...37,442,080
Ensembl chr 8:34,583,265...34,618,183 		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 chr 8:37,479,231...37,515,303
Ensembl chr 8:34,656,000...34,692,666 		JBrowse link
G BRF2 BRF2 general transcription factor IIIB 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 chr 8:37,144,341...37,150,371
Ensembl chr 8:34,321,746...34,327,622 		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 chr 8:37,533,579...37,564,864
Ensembl chr 8:34,711,446...34,741,471 		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 chr 8:37,336,698...37,362,768
Ensembl chr 8:34,513,359...34,538,936 		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 chr 8:37,034,391...37,057,164
Ensembl chr 8:34,212,704...34,233,583 		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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 chr 8:37,234,593...37,241,464
Ensembl chr 8:34,412,465...34,418,343 		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 chr 8:38,275,582...38,290,058
Ensembl chr 8:35,450,447...35,465,078 		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 chr 8:37,687,640...37,711,531
Ensembl chr 8:34,864,516...34,888,534 		JBrowse link
G LINC03042 long intergenic non-protein coding RNA 3042 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 chr 8:37,816,107...37,834,771
Ensembl chr 8:34,991,534...35,008,971 		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 chr 8:37,465,986...37,479,186
Ensembl chr 8:34,642,938...34,656,142 		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 chr 8:37,571,831...37,684,297
Ensembl chr 8:34,754,353...34,860,766 		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 chr 8:38,202,121...38,275,316
Ensembl chr 8:35,377,105...35,446,938 		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 chr 8:37,060,599...37,081,250
Ensembl chr 8:34,238,411...34,258,846 		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 chr 8:37,565,227...37,571,698
Ensembl chr 8:34,741,842...34,748,012 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Kallmann syndrome 2 ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655 		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 chr 8:37,159,466...37,200,147
Ensembl chr 8:34,336,553...34,356,333 		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 chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544 		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 chr 8:38,029,394...38,154,189
Ensembl chr 8:35,219,219...35,329,134 		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 chr 8:38,290,204...38,297,903
Ensembl chr 8:35,466,949...35,472,985 		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 | ClinVar Annotator: match by term: PROKR2-related condition OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655 		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: Kallmann syndrome 4 | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 3:71,711,334...71,724,865
Ensembl chr 3:73,068,599...73,080,897 		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:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutations, nonsense mutations:exon:multiple		 RGD PMID:15845591 PMID:16764984 PMID:16882753 RGD:11567239 RGD:11567240 RGD:11567241 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650 		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 chr  X:22,903,403...22,908,527
Ensembl chr  X:30,459,527...30,464,652 		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 ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA ClinVar PMID:23533228 PMID:25741868 PMID:28492532 NCBI chr  X:1,035,112...1,235,112
Ensembl chr  X:8,396,290...8,598,406 		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 chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:33111345 NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469 		JBrowse link
G PROK2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:71,711,334...71,724,865
Ensembl chr 3:73,068,599...73,080,897 		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 chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:33111345 NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439 		JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 5:135,914,506...135,922,704
Ensembl chr 5:142,032,119...142,039,188 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr15:35,885,421...36,257,632
Ensembl chr15:54,202,862...54,570,440 		JBrowse link
G WDR11 WD repeat domain 11 ISO MouseDO NCBI chr10:117,430,788...117,488,778
Ensembl chr10:120,845,695...120,903,540 		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:15300250 PMID:16155193 PMID:16615981 PMID:17576681 More... NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:75,329,049...75,612,946
Ensembl chr 7:88,995,049...89,274,241 		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:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr  X:1,035,112...1,235,112
Ensembl chr  X:8,396,290...8,598,406 		JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr2B:66,086,654...66,307,309 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 chr 4:56,295,425...56,314,962
Ensembl chr 4:62,687,474...62,706,167 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 NCBI chr19:211,563...215,332 JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 1:86,719,650...86,727,607
Ensembl chr 1:121,774,940...121,775,347 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:60,413,098...60,439,359
Ensembl chr  X:70,469,764...70,496,526 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469 		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 chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279 		JBrowse link
G POU6F2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:39,613,073...40,104,152
Ensembl chr 7:39,875,708...40,330,667 		JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:71,711,334...71,724,865
Ensembl chr 3:73,068,599...73,080,897 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:50,083,733...50,117,518
Ensembl chr 3:51,318,089...51,351,958 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:5,699,738...5,711,210 JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:96,022,788...96,162,249
Ensembl chr 4:106,644,943...106,776,172 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
Lipoid Congenital Adrenal Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164 		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 chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544 		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 chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		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 chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		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:29100090 PMID:32378186 PMID:32585897 NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335 		JBrowse link
G HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801 		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: Mayer Rokitansky Kuster Hauser syndrome type 1 | ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 PMID:28492532 NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335 		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 chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100968898 cytochrome b5 ISO ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 OMIM
ClinVar		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732 		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: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:25081361 PMID:25741868 PMID:26633546 PMID:27480277 PMID:28492532 More... NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231 		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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		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 chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801 		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 chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		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 chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:25741868 PMID:34161696 Ensembl chr  X:49,058,622...49,067,821 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: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar		 PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258 		JBrowse link
Ovarian Dysgenesis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HROB homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Ovarian dysgenesis 11 OMIM
ClinVar		 PMID:34707299 PMID:38105698 NCBI chr17:13,233,464...13,254,726
Ensembl chr17:13,395,473...13,409,505 		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 chr  X:43,071,039...43,076,941
Ensembl chr  X:50,783,925...50,791,369 		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 chr17:14,743,314...14,749,484
Ensembl chr17:14,967,236...14,972,875 		JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277 		JBrowse link
G PSMC3IP PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr17:14,738,205...14,744,215
Ensembl chr17:14,961,602...14,967,639 		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: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar		 PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865 		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:20506135 PMID:25741868 PMID:25774885 PMID:28492532 More... NCBI chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		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 PMID:34707299 NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642 		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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		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: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30113650 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303 		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 chr 8:43,691,454...44,166,259
Ensembl chr 8:41,083,964...41,558,170 		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 chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903 		JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition OMIM
ClinVar		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903 		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 susceptibility 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 ClinVar
OMIM		 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Partial androgen insensitivity syndrome ClinVar PMID:19223936 PMID:21204792 PMID:22967285 PMID:23408573 PMID:25741868 More... NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		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 chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:27,913,117...27,919,167 JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860 		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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994 		JBrowse link
G LOC100969951 histidine--tRNA ligase, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950 		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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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 chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042 		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 chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr11:60,484,645...60,489,718
Ensembl chr11:63,823,018...63,828,127 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588 		JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100969951 histidine--tRNA ligase, mitochondrial ISO ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950 		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: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077 		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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994 		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:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 More... NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407 		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 chr17:27,913,117...27,919,167 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 chr19:1,260,219...1,263,395 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 chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175 		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 chr 9:67,327,047...67,411,754
Ensembl chr 9:95,451,031...95,522,739 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pseudohermaphroditism ClinVar NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency ClinVar PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 More... NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		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 chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718 		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 chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		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 IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:11891687 PMID:18611983 NCBI chr11:108,938,414...109,133,819
Ensembl chr11:112,780,380...112,977,164 		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 chr 8:7,442,921...7,526,731 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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		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 chr 7:46,564,234...46,573,145 JBrowse link
G LOC100971425 somatotropin ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,473,439...31,754,446 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 chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:61,565,790...61,811,588
Ensembl chr  X:71,649,341...71,894,896 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: LAS1L-related condition | ClinVar Annotator: match by term: Wilson-Turner syndrome OMIM
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:54,628,539...54,650,756
Ensembl chr  X:64,703,731...64,727,169 		JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:54,162,659...54,623,859
Ensembl chr  X:64,563,916...64,699,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      endocrine system disease 6231
        gonadal disease 1359
          disorder of sexual development 234
            46, XX Disorders of Sex Development + 37
            46, XY Disorders of Sex Development + 85
            Adrenogenital Syndrome + 26
            Campomelic Dysplasia with Autosomal Sex Reversal 1
            Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
            Mullerian aplasia and hyperandrogenism 1
            Ovotesticular Disorders of Sex Development + 1
            Sex Chromosome Disorders of Sex Development + 26
            Verloes Gillerot Fryns Syndrome 0
            androgen insensitivity syndrome + 5
            cryptorchidism + 53
            gonadal dysgenesis + 60
            gynecomastia + 12
            hermaphroditism 0
            hyperandrogenism + 6
            methemoglobinemia and ambiguous genitalia 1
            pseudohermaphroditism + 8
Path 2
Term Annotations click to browse term
  disease 15833
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12944
        Congenital Abnormalities 7812
          Urogenital Abnormalities 450
            disorder of sexual development 234
              46, XX Disorders of Sex Development + 37
              46, XY Disorders of Sex Development + 85
              Adrenogenital Syndrome + 26
              Campomelic Dysplasia with Autosomal Sex Reversal 1
              Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome 2
              Mullerian aplasia and hyperandrogenism 1
              Ovotesticular Disorders of Sex Development + 1
              Sex Chromosome Disorders of Sex Development + 26
              Verloes Gillerot Fryns Syndrome 0
              androgen insensitivity syndrome + 5
              cryptorchidism + 53
              gonadal dysgenesis + 60
              gynecomastia + 12
              hermaphroditism 0
              hyperandrogenism + 6
              methemoglobinemia and ambiguous genitalia 1
              pseudohermaphroditism + 8
paths to the root