DisGeNET - a database of gene-disease associations

HSD17B4, hydroxysteroid 17-beta dehydrogenase 4, 3295

N. diseases: 141; N. variants: 53

Disease: Bifunctional peroxisomal enzyme deficiency ×

Variant: rs25640 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs25640

rs25640

Entrez Id:	3295
Gene Symbol:	HSD17B4

HSD17B4

CUI:	C0342870
Disease:

Bifunctional peroxisomal enzyme deficiency

0.800

GeneticVariation

UNIPROT

dbSNP:

rs25640

rs25640

Entrez Id:	3295
Gene Symbol:	HSD17B4

HSD17B4

CUI:	C0342870
Disease:

Bifunctional peroxisomal enzyme deficiency

C

0.800

CausalMutation

CLINVAR