DisGeNET - a database of gene-disease associations

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, C4014660

Variant: rs587777585 ×

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:

rs587777585

VARS2

0.800

GeneticVariation

UNIPROT

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777585

VARS2

0.800

GeneticVariation

UNIPROT

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777585

VARS2

0.800

CausalMutation

CLINVAR