Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373370177
rs373370177
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs373370177
rs373370177
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GeneticVariation UNIPROT Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004 2014