Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
|||
|
0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Deep sequencing reveals 50 novel genes for recessive cognitive disorders. | 21937992 | 2011 |
|||
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
||||
|
G | 0.800 | GeneticVariation | CLINVAR | Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. | 20198643 | 2010 |
|||
|
G | 0.800 | GeneticVariation | CLINVAR | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. | 20198643 | 2010 |
|||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
|||
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |