Coenzyme q10 deficiency

Disease Term Disease ID Gene Symbol Classification References Source
COENZYME Q10 DEFICIENCY C1843920 COQ2 Causal Pathogenic evidence from ClinVar 27604308 ClinVar
COQ8A Causal Pathogenic evidence from ClinVar 24896178, 27604308 ClinVar
COQ9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308, 30712880 -
COENZYME Q10 DEFICIENCY, PRIMARY, 1 C3551954 COQ2 Causal Pathogenic evidence from ClinVar 16400613, 17332895, 17374725, 17855635, 23343605, 24896178, 25525159, 25564041, 25655951, 27493029, 27604308, 28044327, 30180404 ClinVar
COQ8A Causal Pathogenic evidence from ClinVar 18319072 ClinVar
COQ9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19375058 -
COENZYME Q10 DEFICIENCY, PRIMARY, 8 C4225226 COQ7 Causal Pathogenic evidence from ClinVar 26084283, 28409910, 30369941 ClinVar
COENZYME Q10 DEFICIENCY, PRIMARY, 3 C3553358 PDSS2 Causal Pathogenic evidence from ClinVar 17186472, 17374725, 18437205, 27604308 ClinVar
COENZYME Q10 DEFICIENCY, PRIMARY, 7 C4225392 COQ4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25658047, 26185144, 26741492, 27604308 -
COENZYME Q10 DEFICIENCY, PRIMARY, 6 C3553349 COQ6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21540551, 24140869, 27604308, 28044327 -
ENTPD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21540551, 24140869 -
COENZYME Q10 DEFICIENCY, PRIMARY, 5 C3553374 COQ9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11562630, 19375058, 20495179, 20689595, 23255162, 25655951, 25802402, 26081641, 27604308, 28736527 -
COENZYME Q10 DEFICIENCY, PRIMARY, 2 C3553354 PDSS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17332895, 22494076, 27604308 -