Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GeneticVariation disease UNIPROT Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004 2014
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GeneticVariation disease CLINVAR
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 Biomarker disease CTD_human
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004 2014
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 CausalMutation disease CLINVAR
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 		0.700 GermlineCausalMutation disease ORPHANET Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004 2014