Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775 2018
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. 27839525 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. 25705216 2015
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 CausalMutation CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344 2011
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 GeneticVariation UNIPROT