Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209

2009
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655

2003
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Magnetic stimulation of the nervous system. 2019643

1991