Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |