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: 6716
Gene Symbol: SRD5A2
SRD5A2 		steroid 5 alpha-reductase 2 0.564 0.615
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.110 None 1.000 1 4 2019 2019
Entrez Id: 50846
Gene Symbol: DHH
DHH 		desert hedgehog signaling molecule 0.650 0.423 0.22
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19 		DnaJ heat shock protein family (Hsp40) member C19 0.663 0.577 6.1E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 0 0
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 0 0
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: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 0 0
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 0 1
Entrez Id: 5447
Gene Symbol: POR
POR 		cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.100 None 0 0
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		disease 0.010 None 1.000 1 0 2013 2013