Cardioencephalomyopathy

Disease Term Disease ID Gene Symbol Classification References Source
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency C1858424 COA5 Causal Pathogenic evidence from ClinVar 21457908 ClinVar
COA6 Causal Pathogenic evidence from ClinVar 24549041, 25339201 ClinVar
COX15 Causal Pathogenic evidence from ClinVar 2175025, 21412973 ClinVar
SCO2 Causal Pathogenic evidence from ClinVar 10545952, 10749987, 11673586, 14994243, 15210538, 17189203, 19336478, 19353847, 20864674, 22515166, 25655951, 25959673, 27604308 ClinVar
NCAPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11013136, 19295170, 23878101 -
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 C4225154 COA5 Causal Pathogenic evidence from ClinVar 21457908 ClinVar
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 C4225304 COA6 Causal Pathogenic evidence from ClinVar 22277967, 24549041, 25339201, 25959673 ClinVar
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 C3554534 COX15 Causal Pathogenic evidence from ClinVar 12474143, 15235026, 21412973, 27604308 ClinVar
CUTC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -