Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GermlineCausalMutation disease ORPHANET
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene. 22264700 2012
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425 1998
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241 2014
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 CausalMutation disease CLINVAR
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 AlteredExpression disease BEFREE Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. 23939262 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice. 7592982 1995
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 7814018 1995
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655 2003
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CTD_human Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 8528210 1995
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459 2000
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425 1998
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CTD_human Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341 1996
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease GENOMICS_ENGLAND Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459 2000
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. 11160968 2001