DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Congenital Disorders of Glycosylation ×

Gene: SRD5A3 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

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

2010

2019