Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. 25288793 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 24123792 2013
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. 23499752 2013
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 GeneticVariation UNIPROT Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011