Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. 26276013

2015
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027

2011
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 10407773

1999
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998