Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 Biomarker disease GENOMICS_ENGLAND Clinicopathologic Findings of CARS2 Mutation. 30139652 2018
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 GeneticVariation disease UNIPROT Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. 25787132 2015
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. 25787132 2015
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. 25787132 2015
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 GeneticVariation disease UNIPROT A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. 25361775 2014
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 GermlineCausalMutation disease ORPHANET A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. 25361775 2014
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 CausalMutation disease CLINVAR
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 Biomarker disease CTD_human