Source: GENOMICS_ENGLAND

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: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.700 None 1.000 4 0 2008 2016
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C2675185
Disease: Kahrizi Syndrome
Kahrizi Syndrome 		disease 0.610 None 1.000 2 0 2011 2016
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.470 strong 1.000 0 0 2010 2019