DisGeNET - a database of gene-disease associations

IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15

Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 ×

Variant: rs267606870 ×

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:

rs267606870

Entrez Id:	3418
Gene Symbol:	IDH2

IDH2

CUI:	C3150909
Disease:

D-2-HYDROXYGLUTARIC ACIDURIA 2

0.800

GeneticVariation

UNIPROT

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

20847235

2010

dbSNP:

rs267606870

Entrez Id:	3418
Gene Symbol:	IDH2

IDH2

CUI:	C3150909
Disease:

D-2-HYDROXYGLUTARIC ACIDURIA 2

0.800

CausalMutation

CLINVAR