COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554796655
rs1554796655
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		CG 0.700 CausalMutation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
dbSNP: rs1554796655
rs1554796655
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		CG 0.700 CausalMutation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015