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.
G
Ar
androgen receptor
ISO
mRNA:decreased expression:mucosa of urethra
RGD
PMID:15472213 PMID:23386417
RGD:1578685 , RGD:11576230
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:67,135,317...67,304,467
G
Atf3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18001166
NCBI chr13:105,274,103...105,331,653
Ensembl chr13:105,282,440...105,295,750
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association
ISO
RGD
PMID:15579657 PMID:21300689
RGD:11576312 , RGD:11576313
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
G
Dgkk
diacylglycerol kinase kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21113153 PMID:27098078
NCBI chr X:18,253,849...18,385,805
Ensembl chr X:18,256,463...18,385,640
G
Esr2
estrogen receptor 2
susceptibility
ISO
DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human)
RGD
PMID:17579196 PMID:17579196
RGD:1626506 , RGD:1626506
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709
G
Fgf10
fibroblast growth factor 10
IEP
RGD
PMID:19464577
RGD:2314151
NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
G
Fgf8
fibroblast growth factor 8
IEP
RGD
PMID:19464577
RGD:2314151
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605
G
Fgfr2
fibroblast growth factor receptor 2
IEP
mRNA:decreased expression:male genital tubercle (rat)
RGD
PMID:19464577
RGD:2314151
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:genital tubercle
RGD
PMID:33618583
RGD:405650613
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598
G
Fscn3
fascin actin-bundling protein 3
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 4:58,008,124...58,017,674
Ensembl chr 4:58,008,230...58,017,673
G
Gli3
GLI family zinc finger 3
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion, haplotype: : (human)
RGD
PMID:21300689
RGD:11576313
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
G
Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion, haplotype: : (human)
RGD
PMID:21300689
RGD:11576313
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
G
Hhip
Hedgehog-interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31568847
NCBI chr19:44,768,038...44,856,878
Ensembl chr19:44,767,536...44,862,795
G
Hoxa13
homeo box A13
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701
G
Hoxd13
homeo box D13
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
G
Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity
RGD
PMID:14764821
RGD:1625114
NCBI chr 2:188,858,574...188,864,694
G
Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14764821
NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:188,784,614...188,790,569
G
Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343
G
Mir200c
microRNA 200c
IEP
RNA:decreased expression:penis
RGD
PMID:27794206
RGD:597830139
NCBI chr 4:159,209,965...159,210,033
G
Mir494
microRNA 494
ISO
RNA:increased expression:urethra
RGD
PMID:32413360
RGD:156431051
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:134,550,114...134,550,198
G
Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
protein:decreased expression:urethra
RGD
PMID:32413360
RGD:156431051
NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828
G
Ppbp
pro-platelet basic protein
IEP
protein:increased expression:blood
RGD
PMID:37059017
RGD:401795478
NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299
G
Smad3
SMAD family member 3
IEP
mRNA,protein:increased expression:penis
RGD
PMID:27794206
RGD:597830139
NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324
G
Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 4:58,060,689...58,459,926
Ensembl chr 4:58,060,640...58,459,925
G
Srd5a2
steroid 5 alpha-reductase 2
susceptibility
ISO
protein:missense mutations:cds:p.R227Q, p.F186L (human)
RGD
PMID:10514539
RGD:1600059
NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588
G
Wnt11
Wnt family member 11
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:162,545,680...162,564,660
G
Wnt8a
Wnt family member 8A
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr18:26,411,833...26,417,426
Ensembl chr18:26,411,833...26,417,426
G
Zeb1
zinc finger E-box binding homeobox 1
IEP
mRNA,protein:increased expression:penis
RGD
PMID:27794206
RGD:597830139
NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745
G
Abcc4
ATP binding cassette subfamily C member 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,948,387...102,182,912
Ensembl chr15:101,949,433...102,181,375
G
Abhd13
abhydrolase domain containing 13
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:86,203,851...86,218,843
Ensembl chr16:86,201,794...86,290,906
G
Ankrd10
ankyrin repeat domain 10
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,566,021...84,591,849
Ensembl chr16:84,568,506...84,591,846
G
Arglu1
arginine and glutamate rich 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:87,455,097...87,479,148
Ensembl chr16:87,455,113...87,479,148
G
Bivm
basic, immunoglobulin-like variable motif containing
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118
G
Cars2
cysteinyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,649,617...84,689,254
Ensembl chr16:84,645,627...84,690,192
G
Ccdc168
coiled-coil domain containing 168
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639
G
Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589
G
Clybl
citramalyl-CoA lyase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,690,283...105,912,347
Ensembl chr15:105,690,295...105,912,345
G
Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482
G
Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520
G
Dct
dopachrome tautomerase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,469,159...101,508,029
Ensembl chr15:101,469,159...101,508,029
G
Dnajc3
DnaJ heat shock protein family (Hsp40) member C3
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:102,432,667...102,475,643
Ensembl chr15:102,432,663...102,475,643
G
Dock9
dedicator of cytokinesis 9
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,018,341...105,289,799
Ensembl chr15:105,024,912...105,289,799
G
Dzip1
DAZ interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:102,363,392...102,417,085
Ensembl chr15:102,363,392...102,417,085
G
Efnb2
ephrin B2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:87,485,215...87,529,224
Ensembl chr16:87,485,198...87,529,208
G
Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084
G
Farp1
FERM, ARH/RhoGEF and pleckstrin domain protein 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:104,531,196...104,770,148
Ensembl chr15:104,531,813...104,770,147
G
Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808
G
Ggact
gamma-glutamylamine cyclotransferase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:106,375,924...106,406,649
Ensembl chr15:106,366,120...106,404,004
G
Gpc6
glypican 6
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:100,437,415...101,435,038
Ensembl chr15:100,437,943...101,435,027
G
Gpr18
G protein-coupled receptor 18
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,404,062...105,407,812
Ensembl chr15:105,404,077...105,408,836
G
Gpr180
G protein-coupled receptor 180
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,602,870...101,635,556
Ensembl chr15:101,603,259...101,635,556
G
Gpr183
G protein-coupled receptor 183
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,445,129...105,457,192
Ensembl chr15:105,437,561...105,466,977
G
Hs6st3
heparan sulfate 6-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:102,688,420...103,407,725
Ensembl chr15:102,688,365...103,408,384
G
Ing1
inhibitor of growth family, member 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,639,378...84,649,498
Ensembl chr16:84,639,381...84,647,616
G
Ipo5
importin 5
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:104,397,626...104,447,985
Ensembl chr15:104,397,276...104,447,985
G
Irs2
insulin receptor substrate 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:85,190,310...85,214,543
Ensembl chr16:85,190,111...85,214,543
G
Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:107,186,792...107,448,335
Ensembl chr15:107,186,689...107,451,098
G
Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:86,220,345...86,228,930
Ensembl chr16:86,220,279...86,229,926
G
Mbnl2
muscleblind-like splicing regulator 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:103,792,134...103,949,827
Ensembl chr15:103,792,152...103,949,827
G
Mettl21c
methyltransferase 21C, AARS1 lysine
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204
G
Myo16
myosin XVI
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:85,586,428...86,066,537
Ensembl chr16:85,586,429...85,973,879
G
Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858
G
Nalf1
NALCN channel auxiliary factor 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:86,415,540...86,938,150
Ensembl chr16:86,415,488...86,938,150
G
Naxd
NAD(P)HX dehydratase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,689,776...84,706,256
Ensembl chr16:84,688,243...84,706,411
G
Oxgr1
oxoglutarate receptor 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:103,551,338...103,573,611
Ensembl chr15:103,552,861...103,553,874
G
Pcca
propionyl-CoA carboxylase subunit alpha
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908
G
Poglut2
protein O-glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588
G
Rab20
RAB20, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,721,427...84,745,610
Ensembl chr16:84,721,427...84,745,610
G
Rap2a
RAP2A, member of RAS oncogene family
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:104,003,744...104,004,234
G
Slc10a2
solute carrier family 10 member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025
G
Slc15a1
solute carrier family 15 member 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:104,944,461...104,991,316
Ensembl chr15:104,944,463...104,989,369
G
Sox21
SRY-box transcription factor 21
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,699,580...101,703,175
Ensembl chr15:101,674,512...101,819,980
G
Stk24
serine/threonine kinase 24
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:104,770,556...104,866,524
Ensembl chr15:104,773,569...104,865,975
G
Tex30
testis expressed 30
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042
G
Tgds
TDP-glucose 4,6-dehydratase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718
G
Tm9sf2
transmembrane 9 superfamily member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,606,082...105,660,715
Ensembl chr15:105,606,118...105,660,714
G
Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210
G
Tnfsf13b
TNF superfamily member 13b
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499
G
Tpp2
tripeptidyl peptidase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251
G
Ubac2
UBA domain containing 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444
G
Uggt2
UDP-glucose glycoprotein glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:102,480,239...102,646,291
Ensembl chr15:102,480,781...102,646,410
G
Zic2
Zic family member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167
G
Zic5
Zic family member 5
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:105,964,932...105,973,669
Ensembl chr15:105,964,932...105,973,669
G
Hoxa13
homeo box A13
ISO
ClinVar Annotator: match by term: Guttmacher syndrome | ClinVar Annotator: match by term: HOXA13-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24239177 PMID:25741868 PMID:28492532
NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701
G
Ar
androgen receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypospadias 1, X-linked
CTD ClinVar OMIM
PMID:2594783 PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 PMID:8723113 PMID:9332480 PMID:17970778 PMID:20305676 PMID:23637914 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27051040 PMID:27583472 PMID:27899157 PMID:28261839 PMID:28492532 PMID:28611373 PMID:28659371 PMID:29758562 PMID:31219235 PMID:34689141 PMID:36572623 More...
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:67,135,317...67,304,467
G
Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: Hypospadias 1, X-linked
ClinVar
NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:188,784,614...188,790,569
G
Mid1
midline 1
ISO ISS
ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM:300000 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
NCBI chr X:27,678,248...28,053,049
Ensembl chr X:27,681,867...27,906,105
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 PMID:1522235 PMID:1944596 PMID:2154055 PMID:2665940 PMID:4028464 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:8784107 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9536098 PMID:9745434 PMID:9843052 PMID:10501358 PMID:10564874 PMID:10718838 PMID:10898110 PMID:10999800 PMID:11869378 PMID:12008688 PMID:12576851 PMID:12699446 PMID:12843198 PMID:14560315 PMID:14594182 PMID:15064320 PMID:15266301 PMID:15528927 PMID:15770495 PMID:16181229 PMID:16199547 PMID:17576681 PMID:17609295 PMID:18097518 PMID:18314109 PMID:18350250 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:19492581 PMID:20019388 PMID:20179965 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:20850730 PMID:21147889 PMID:21402750 PMID:21540559 PMID:21631525 PMID:21714467 PMID:22272144 PMID:22362597 PMID:22435390 PMID:22453073 PMID:22876553 PMID:23112260 PMID:23329752 PMID:23633205 PMID:24412121 PMID:24665940 PMID:24737579 PMID:24885102 PMID:25248670 PMID:25266188 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:26453174 PMID:26761946 PMID:26980298 PMID:27070133 PMID:27086719 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:28938747 PMID:29582157 PMID:29798939 PMID:30132287 PMID:30668521 PMID:30695888 PMID:30889611 PMID:30968598 PMID:31031332 PMID:31130284 PMID:31186340 PMID:31219235 PMID:31277073 PMID:31885560 PMID:32346305 PMID:32371413 PMID:32380235 PMID:32567554 PMID:32596280 PMID:32713132 PMID:32894851 PMID:33516834 PMID:33742552 PMID:33775494 PMID:35331321 PMID:35386187 PMID:35488637 PMID:35700942 PMID:36617173 PMID:37918676 PMID:39285472 PMID:288959874 More...
NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588
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 chr 6:27,282,319...27,344,022
Ensembl chr 6:27,282,057...27,344,350
G
Kctd1
potassium channel tetramerization domain containing 1
ISO ISS
ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD MouseDO
PMID:1799422 PMID:8042668 PMID:9383029 PMID:9536098 PMID:10517259 PMID:16411189 PMID:17576681 PMID:23541344 PMID:25741868 PMID:28492532 PMID:31324836 More...
NCBI chr18:6,396,947...6,591,026
Ensembl chr18:6,396,947...6,515,191
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19167
physical disorder
5216
hypospadias
88
Anal Atresia, Hypospadias, and Penoscrotal Inversion
55
Guttmacher syndrome
1
Hypospadias 1, X-Linked
2
Hypospadias 2, X-Linked
0
Hypospadias 3, Autosomal
0
Hypospadias 4
0
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
0
Hypospadias-Mental Retardation Syndrome
0
Naguib-Richieri-Costa Syndrome
0
Opitz GBBB syndrome
1
Pseudovaginal Perineoscrotal Hypospadias
2
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
0
Radius Absent Anogenital Anomalies
0
Schilbach-Rott Syndrome
0
Stratton-Parker Syndrome
0
scalp-ear-nipple syndrome
1
Path 2
disease
19167
disease of anatomical entity
18473
Urogenital Diseases
5238
reproductive system disease
3200
male reproductive system disease
2053
penile disease
132
hypospadias
88
Anal Atresia, Hypospadias, and Penoscrotal Inversion
55
Guttmacher syndrome
1
Hypospadias 1, X-Linked
2
Hypospadias 2, X-Linked
0
Hypospadias 3, Autosomal
0
Hypospadias 4
0
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
0
Hypospadias-Mental Retardation Syndrome
0
Naguib-Richieri-Costa Syndrome
0
Opitz GBBB syndrome
1
Pseudovaginal Perineoscrotal Hypospadias
2
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
0
Radius Absent Anogenital Anomalies
0
Schilbach-Rott Syndrome
0
Stratton-Parker Syndrome
0
scalp-ear-nipple syndrome
1