DisGeNET - a database of gene-disease associations

L-2-hydroxyglutaric acidemia, C3888081

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	79944
Gene Symbol:	L2HGDH

L2HGDH

0.500

Biomarker

disease

MGD

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

25763823

2015

Entrez Id:	79944
Gene Symbol:	L2HGDH

L2HGDH

0.500

GermlineCausalMutation

disease

ORPHANET

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

20052767

2010