DisGeNET - a database of gene-disease associations

GTPBP3, GTP binding protein 3, mitochondrial, 84705

N. diseases: 18; N. variants: 13

Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 ×

Variant: rs886037735 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886037735

Entrez Id:	84705
Gene Symbol:	GTPBP3

GTPBP3

CUI:	C4015447
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23

0.800

GeneticVariation

UNIPROT

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

26741492

2016

dbSNP:

rs886037735

Entrez Id:	84705
Gene Symbol:	GTPBP3

GTPBP3

CUI:	C4015447
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23

0.800

GeneticVariation

UNIPROT

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

25434004

2014

dbSNP:

rs886037735

Entrez Id:	84705
Gene Symbol:	GTPBP3

GTPBP3

CUI:	C4015447
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23

0.800

CausalMutation

CLINVAR