Source: ORPHANET

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: 2516
Gene Symbol: NR5A1
NR5A1 		nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.310 None 1.000 1 0 2014 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.310 None 1.000 1 0 2007 2010
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 6845
Gene Symbol: VAMP7
VAMP7 		vesicle associated membrane protein 7 0.612 0.577 1.4E-02
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 58524
Gene Symbol: DMRT3
DMRT3 		doublesex and mab-3 related transcription factor 3 0.653 0.500 6.2E-06
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1 		mitogen-activated protein kinase kinase kinase 1 0.538 0.731 1.00
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.300 None 1.000 1 0 2015 2015