Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.200 None 0.962 26 1 1990 2020
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
steroid 5 alpha-reductase 2 0.564 0.615
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.100 None 0.882 17 8 2004 2019
Entrez Id: 10046
Gene Symbol: MAMLD1
MAMLD1
mastermind like domain containing 1 0.650 0.500 0.63
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.400 None 1.000 14 2 2006 2018
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.200 None 0.917 12 5 2009 2017
Entrez Id: 139189
Gene Symbol: DGKK
DGKK
diacylglycerol kinase kappa 0.780 0.385
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.470 None 1.000 9 8 2011 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.080 None 0.875 8 1 2006 2020
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.170 None 0.857 7 0 1995 2019
Entrez Id: 467
Gene Symbol: ATF3
ATF3
activating transcription factor 3 0.494 0.885 8.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.370 None 1.000 7 1 2005 2018
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
estrogen receptor 2 0.400 0.923 4.5E-08
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.060 None 1.000 6 3 2006 2016
Entrez Id: 4281
Gene Symbol: MID1
MID1
midline 1 0.621 0.654 0.98
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.140 None 1.000 4 0 2003 2013
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.140 None 1.000 4 1 2011 2019
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.230 None 0.750 4 0 2004 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.140 None 1.000 4 3 1999 2018
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.040 None 1.000 4 1 2012 2020
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.220 None 1.000 3 3 2007 2019
Entrez Id: 655
Gene Symbol: BMP7
BMP7
bone morphogenetic protein 7 0.498 0.769 0.13
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.030 None 1.000 3 0 2003 2013
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.030 None 1.000 3 2 2010 2018
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
homeobox A13 0.552 0.654 0.96
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.320 None 1.000 3 0 2003 2016
Entrez Id: 1543
Gene Symbol: CYP1A1
CYP1A1
cytochrome P450 family 1 subfamily A member 1 0.436 0.846 1.1E-17
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.030 None 1.000 3 1 2005 2019
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.220 None 0.667 3 0 2007 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.120 None 1.000 2 0 2017 2019
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
steroid 5 alpha-reductase 1 0.631 0.538 1.2E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.020 None 0.500 2 0 2004 2013
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.110 None 1.000 2 1 2014 2019
Entrez Id: 4320
Gene Symbol: MMP11
MMP11
matrix metallopeptidase 11 0.542 0.692 2.4E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.020 None 1.000 2 0 2012 2012
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease 0.420 None 1.000 2 0 2004 2015