|
| 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: |
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 |
|
| 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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
|
11160968 |
2001 |
|
| 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 |
|
| Entrez Id: |
7054 |
| Gene Symbol: |
TH |
TH
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
|
11196107 |
2000 |
|
| 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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
|
11246459 |
2000 |