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: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.420 None 1.000 3 0 2006 2019
Entrez Id: 1646
Gene Symbol: AKR1C2
AKR1C2
aldo-keto reductase family 1 member C2 0.608 0.577 6.9E-11
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.400 None 1.000 1 0 2015 2015
Entrez Id: 1645
Gene Symbol: AKR1C1
AKR1C1
aldo-keto reductase family 1 member C1 0.593 0.615 3.5E-15
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 8644
Gene Symbol: AKR1C3
AKR1C3
aldo-keto reductase family 1 member C3 0.529 0.769 7.6E-24
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR
luteinizing hormone/choriogonadotropin receptor 0.528 0.692 5.3E-08
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.200 None 1.000 11 0 1992 2013
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.140 None 1.000 4 0 2005 2014
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.140 None 1.000 4 0 2007 2017
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.130 None 1.000 3 2 1992 2010
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: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.130 None 1.000 3 0 2005 2016
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.120 None 1.000 2 0 2006 2009
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.120 None 1.000 2 2 2002 2018
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 58524
Gene Symbol: DMRT3
DMRT3
doublesex and mab-3 related transcription factor 3 0.653 0.500 6.2E-06
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
nuclear receptor subfamily 3 group C member 1 0.393 0.885 0.97
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
WD repeat domain 60 0.592 0.654 4.3E-12
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 1
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
PBX homeobox 1 0.534 0.846 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
mitogen-activated protein kinase kinase kinase 1 0.538 0.731 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease 0.100 None 0 0