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:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Atf3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18001166
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association
ISO
RGD
PMID:15579657 PMID:21300689
RGD:11576312 , RGD:11576313
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Dgkk
diacylglycerol kinase kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21113153 PMID:27098078
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
G
Esr2
estrogen receptor 2
susceptibility
ISO
DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human)
RGD
PMID:17579196 PMID:17579196
RGD:1626506 , RGD:1626506
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
Fgf10
fibroblast growth factor 10
IEP
RGD
PMID:19464577
RGD:2314151
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
G
Fgf8
fibroblast growth factor 8
IEP
RGD
PMID:19464577
RGD:2314151
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
G
Fgfr2
fibroblast growth factor receptor 2
IEP
mRNA:decreased expression:male genital tubercle (rat)
RGD
PMID:19464577
RGD:2314151
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Fscn3
fascin actin-bundling protein 3
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 4:57,042,797...57,052,224
Ensembl chr 4:57,042,797...57,052,404
G
Gli3
GLI family zinc finger 3
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion, haplotype: : (human)
RGD
PMID:21300689
RGD:11576313
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion, haplotype: : (human)
RGD
PMID:21300689
RGD:11576313
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Hhip
Hedgehog-interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31568847
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hoxa13
homeo box A13
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
G
Hoxd13
homeo box D13
IEP
mRNA:decreased expression:male genital tubercle
RGD
PMID:27079746
RGD:12743602
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
G
Hsd3b1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
ISO
DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity
RGD
PMID:14764821
RGD:1625114
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
G
Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14764821
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
G
Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
G
Mir494
microRNA 494
ISO
RNA:increased expression:urethra
RGD
PMID:32413360
RGD:156431051
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
G
Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
protein:decreased expression:urethra
RGD
PMID:32413360
RGD:156431051
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
G
Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
G
Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843
G
Srd5a2
steroid 5 alpha-reductase 2
susceptibility
ISO
protein:missense mutations:cds:p.R227Q, p.F186L (human)
RGD
PMID:10514539
RGD:1600059
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
G
Wnt11
Wnt family member 11
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
G
Wnt8a
Wnt family member 8A
ISO
ClinVar Annotator: match by term: Hypospadias
ClinVar
PMID:25741868
NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283
G
Abcc4
ATP binding cassette subfamily C member 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
G
Abhd13
abhydrolase domain containing 13
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748
G
Ankrd10
ankyrin repeat domain 10
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
G
Arglu1
arginine and glutamate rich 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:80,753,300...80,777,350
Ensembl chr16:80,753,315...80,777,349
G
Bivm
basic, immunoglobulin-like variable motif containing
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
G
Cars2
cysteinyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
G
Ccdc168
coiled-coil domain containing 168
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
G
Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
G
Clybl
citramalyl-CoA lyase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
G
Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
G
Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
G
Dct
dopachrome tautomerase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
G
Dnajc3
DnaJ heat shock protein family (Hsp40) member C3
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
G
Dock9
dedicator of cytokinesis 9
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
G
Dzip1
DAZ interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
G
Efnb2
ephrin B2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
G
Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
G
Farp1
FERM, ARH/RhoGEF and pleckstrin domain protein 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299
G
Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Ggact
gamma-glutamylamine cyclotransferase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
G
Gpc6
glypican 6
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
G
Gpr18
G protein-coupled receptor 18
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
G
Gpr180
G protein-coupled receptor 180
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
G
Gpr183
G protein-coupled receptor 183
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
G
Hs6st3
heparan sulfate 6-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462
G
Ing1
inhibitor of growth family, member 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
G
Ipo5
importin 5
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126
G
Irs2
insulin receptor substrate 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
G
Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
G
Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
G
Mbnl2
muscleblind-like splicing regulator 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937
G
Mettl21c
methyltransferase 21C, AARS1 lysine
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
G
Myo16
myosin XVI
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388
G
Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
G
Nalf1
NALCN channel auxiliary factor 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:79,713,577...80,236,424
Ensembl chr16:79,713,724...80,235,120
G
Naxd
NAD(P)HX dehydratase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
G
Oxgr1
oxoglutarate receptor 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612
G
Pcca
propionyl-CoA carboxylase subunit alpha
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
G
Poglut2
protein O-glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
G
Rab20
RAB20, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
G
Rap2a
RAP2A, member of RAS oncogene family
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
G
Slc10a2
solute carrier family 10 member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
G
Slc15a1
solute carrier family 15 member 1
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
G
Sox21
SRY-box transcription factor 21
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,292,272...95,295,316
Ensembl chr15:95,292,265...95,296,091
G
Stk24
serine/threonine kinase 24
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
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Tex30
testis expressed 30
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
G
Tgds
TDP-glucose 4,6-dehydratase
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
G
Tm9sf2
transmembrane 9 superfamily member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
G
Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
G
Tnfsf13b
TNF superfamily member 13b
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
G
Tpp2
tripeptidyl peptidase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
G
Ubac2
UBA domain containing 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
G
Uggt2
UDP-glucose glycoprotein glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806
G
Zic2
Zic family member 2
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
G
Zic5
Zic family member 5
ISO
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion
ClinVar
PMID:31690835
NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
G
Hoxa13
homeo box A13
ISO
ClinVar Annotator: match by term: Guttmacher syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24239177 PMID:25741868 PMID:28492532
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
G
Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Hypospadias 1, X-linked
OMIM ClinVar
PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 PMID:8723113 PMID:9332480 PMID:20305676 PMID:25326637 PMID:25741868 PMID:28261839 PMID:28492532 PMID:29758562 More...
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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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 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Mid1
midline 1
ISO
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 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:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
ClinVar Annotator: match by term: HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
ClinVar
PMID:25741868 PMID:30472488
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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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:835597 PMID:1406794 PMID:1522235 PMID:1944596 PMID:2154055 PMID:2665940 PMID:7554313 PMID:7608269 PMID:8110760 PMID:8262007 PMID:8626825 PMID:8706317 PMID:8723114 PMID:8768837 PMID:9066886 PMID:9135696 PMID:9208814 PMID:9467575 PMID:9745434 PMID:9843052 PMID:10501358 PMID:10718838 PMID:10898110 PMID:10999800 PMID:11869378 PMID:12576851 PMID:12699446 PMID:12843198 PMID:14560315 PMID:14594182 PMID:15064320 PMID:15266301 PMID:15528927 PMID:15770495 PMID:18097518 PMID:18314109 PMID:18384427 PMID:18391525 PMID:18469342 PMID:18717241 PMID:19342739 PMID:19492581 PMID:20019388 PMID:20190539 PMID:20493473 PMID:20583543 PMID:20736251 PMID:21147889 PMID:21402750 PMID:21540559 PMID:21631525 PMID:22272144 PMID:22453073 PMID:22876553 PMID:23329752 PMID:24665940 PMID:24737579 PMID:25248670 PMID:25605705 PMID:25741868 PMID:25899528 PMID:26446026 PMID:26980298 PMID:27070133 PMID:27854360 PMID:27899157 PMID:28110336 PMID:28492532 PMID:28544750 PMID:28663096 PMID:30132287 PMID:31186340 PMID:32346305 PMID:32371413 PMID:32713132 PMID:33516834 PMID:33742552 More...
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Ttn
titin
ISO
ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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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 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Kctd1
potassium channel tetramerization domain containing 1
ISO
ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
OMIM ClinVar
PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 PMID:23541344 PMID:25741868 PMID:28492532 More...
NCBI chr18:6,122,390...6,316,434
Ensembl chr18:6,122,390...6,317,393
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21089
physical disorder
4958
hypospadias
86
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
2
Pseudovaginal Perineoscrotal Hypospadias
3
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
21089
disease of anatomical entity
18156
Urogenital Diseases
4936
reproductive system disease
2952
male reproductive system disease
1959
penile disease
131
hypospadias
86
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
2
Pseudovaginal Perineoscrotal Hypospadias
3
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