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: rs786204540
rs786204540
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 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs786204540
rs786204540
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 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010