Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203956
rs118203956
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		A 0.700 CausalMutation CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725 2007