DisGeNET - a database of gene-disease associations

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, C4015447

Variant: rs886037734 ×

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:

rs886037734

GTPBP3

0.800

GeneticVariation

UNIPROT

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

26741492

2016

dbSNP:

rs886037734

GTPBP3

0.800

GeneticVariation

UNIPROT

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

25434004

2014

dbSNP:

rs886037734

GTPBP3

0.800

CausalMutation

CLINVAR