Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Human gene-centered transcription factor networks for enhancers and disease variants. | 25910213 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. | 17698383 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. | 9235905 | 1997 |