|
| 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 |
GeneticVariation
|
disease |
UNIPROT |
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
|
15747353 |
2005 |
|
| Entrez Id: |
7054 |
| Gene Symbol: |
TH |
TH
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
disease |
UNIPROT |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
|
19491146 |
2009 |
|
| 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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
|
18058633 |
2007 |
|
| Entrez Id: |
7054 |
| Gene Symbol: |
TH |
TH
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription.
|
9235905 |
1997 |
|
| 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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
|
11246459 |
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 |
CausalMutation
|
disease |
CLINVAR |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| 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 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
|
22815559 |
2012 |
|
| Entrez Id: |
7054 |
| Gene Symbol: |
TH |
TH
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
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 |
GeneticVariation
|
disease |
UNIPROT |
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
|
15505183 |
2004 |
|
| 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 |
GeneticVariation
|
disease |
CLINVAR |
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
|
23480488 |
2013 |
|
| Entrez Id: |
7054 |
| Gene Symbol: |
TH |
TH
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|