COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 16116126 2005