DisGeNET - a database of gene-disease associations

3 beta-Hydroxysteroid dehydrogenase deficiency, C0342471

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3284
Gene Symbol:	HSD3B2

HSD3B2

0.780

GeneticVariation

disease

UNIPROT

Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

1993

Entrez Id:	3284
Gene Symbol:	HSD3B2

HSD3B2

0.780

CausalMutation

disease

CLINVAR

Entrez Id:	3284
Gene Symbol:	HSD3B2

HSD3B2

0.780

GermlineCausalMutation

disease

ORPHANET

Entrez Id:	3284
Gene Symbol:	HSD3B2

HSD3B2

0.780

Biomarker

disease

GENOMICS_ENGLAND