Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 GeneticVariation disease UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 Biomarker disease GENOMICS_ENGLAND Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 CausalMutation disease CLINVAR