TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771610752
rs771610752
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012
dbSNP: rs771610752
rs771610752
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
dbSNP: rs771610752
rs771610752
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR