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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 CausalMutation disease CLINVAR
Entrez Id: 5617
Gene Symbol: PRL
PRL 		0.010 Biomarker disease BEFREE Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis. 28667724 2017
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 GeneticVariation disease BEFREE Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. 18345435 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. 11281275 2000
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 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 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 GeneticVariation disease CLINVAR A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 17698383 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 17698383 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685 2012
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 GeneticVariation disease UNIPROT 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 An Indian Family with Tyrosine Hydroxylase Deficiency. 28667724 2017
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. 9613851 1998
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 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 GeneticVariation disease UNIPROT Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
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: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338 1999
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease GENOMICS_ENGLAND Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338 1999
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. 30383639 2018
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Conversion of L-tyrosine to 3,4-dihydroxyphenylalanine by cell-free preparations of brain and sympathetically innervated tissues. 5836553 1964