COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918231
rs121918231
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		T 0.700 CausalMutation CLINVAR The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 27493029 2016
dbSNP: rs121918231
rs121918231
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs121918231
rs121918231
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		T 0.700 CausalMutation CLINVAR COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. 17855635 2007
dbSNP: rs121918231
rs121918231
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		T 0.700 GeneticVariation CLINVAR