TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Dystonia Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. 10661862 1999