DisGeNET - a database of gene-disease associations

Source: ALL

Disease: 17-Hydroxysteroid Dehydrogenase Deficiency ×

Gene: HSD17B3 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3293
Gene Symbol:	HSD17B3

HSD17B3

CUI:	C0268296
Disease:	17-Hydroxysteroid Dehydrogenase Deficiency

17-Hydroxysteroid Dehydrogenase Deficiency

0.790

GermlineCausalMutation

ORPHANET

Entrez Id:	3293
Gene Symbol:	HSD17B3

HSD17B3

CUI:	C0268296
Disease:	17-Hydroxysteroid Dehydrogenase Deficiency

17-Hydroxysteroid Dehydrogenase Deficiency

0.790

GeneticVariation

CLINVAR

Entrez Id:	3293
Gene Symbol:	HSD17B3

HSD17B3

CUI:	C0268296
Disease:	17-Hydroxysteroid Dehydrogenase Deficiency

17-Hydroxysteroid Dehydrogenase Deficiency

0.790

Biomarker

GENOMICS_ENGLAND