Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 GermlineCausalMutation disease ORPHANET Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 GeneticVariation disease UNIPROT Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 GeneticVariation disease CLINVAR
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 CausalMutation disease CLINVAR
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.700 Biomarker disease CTD_human