DisGeNET - a database of gene-disease associations

HADHA, hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, 3030

N. diseases: 154; N. variants: 58

Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ×

Variant: rs1057516217 ×

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:

rs1057516217

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

23430857

2012