DisGeNET - a database of gene-disease associations

Gene: SRD5A2 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.800

Biomarker

CTD_human

A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.

1995