rs121917747, SPR

N. diseases: 2
Disease: Dystonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 CausalMutation CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893 2006