DisGeNET - a database of gene-disease associations

D-2-HYDROXYGLUTARIC ACIDURIA 1, C3152055

Variant: rs121434360 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434360

D2HGDH

0.800

GeneticVariation

UNIPROT

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

16081310

2006

dbSNP:

rs121434360

D2HGDH

0.800

GeneticVariation

UNIPROT

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

15609246

2005

dbSNP:

rs121434360

D2HGDH

0.800

GeneticVariation

UNIPROT

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

16037974

2005

dbSNP:

rs121434360

D2HGDH

0.800

CausalMutation

CLINVAR