DisGeNET - a database of gene-disease associations

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, C3554079

Variant: rs746838793 ×

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:

rs746838793

EARS2

0.700

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs746838793

EARS2

0.700

GeneticVariation

UNIPROT

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

23008233

2013

dbSNP:

rs746838793

EARS2

0.700

GeneticVariation

UNIPROT

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

22492562

2012