DisGeNET - a database of gene-disease associations

L-2-HYDROXYGLUTARIC ACIDURIA, C1855995

Variant: rs267607206 ×

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:

rs267607206

L2HGDH

0.800

GeneticVariation

UNIPROT

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

16134148

2005

dbSNP:

rs267607206

L2HGDH

0.800

GeneticVariation

UNIPROT

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

15385440

2004

dbSNP:

rs267607206

L2HGDH

0.800

GeneticVariation

UNIPROT

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

15548604

2004

dbSNP:

rs267607206

L2HGDH

0.800

CausalMutation

CLINVAR