Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | GeneticVariation | CLINVAR | Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. | 28087438 | 2017 |
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T | 0.800 | GeneticVariation | CLINVAR | Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. | 25758715 | 2015 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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T | 0.800 | CausalMutation | CLINVAR | [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. | 25224241 | 2014 |
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0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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G | 0.800 | GeneticVariation | CLINVAR | Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. | 23480488 | 2013 |
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0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. | 23480488 | 2013 |
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
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0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
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0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |