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: rs549435434
rs549435434
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR Human gene-centered transcription factor networks for enhancers and disease variants. 25910213 2015
dbSNP: rs549435434
rs549435434
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
dbSNP: rs549435434
rs549435434
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 17698383 2007
dbSNP: rs549435434
rs549435434
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
dbSNP: rs549435434
rs549435434
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. 9235905 1997