Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.820 | GeneticVariation | BEFREE | Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. | 22967746 | 2012 |
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|
0.820 | GeneticVariation | UNIPROT | EFNS guidelines on diagnosis and treatment of primary dystonias. | 20482602 | 2011 |
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|
0.820 | GeneticVariation | UNIPROT | Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. | 16717228 | 2006 |
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|
0.820 | GeneticVariation | UNIPROT | Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. | 16972263 | 2006 |
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|
0.820 | GeneticVariation | BEFREE | Two recurrent missense mutations (c.20C>T: A7V; c.26C>T: A9V) in the gene encoding the myofibrillogenesis regulator 1 (MR-1) have been shown to cause autosomal dominant paroxysmal nonkinesigenic dyskinesia (PNKD) in 13 families of primarily European ancestry. | 16632198 | 2006 |
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|
0.820 | GeneticVariation | UNIPROT | Two recurrent missense mutations (c.20C>T: A7V; c.26C>T: A9V) in the gene encoding the myofibrillogenesis regulator 1 (MR-1) have been shown to cause autosomal dominant paroxysmal nonkinesigenic dyskinesia (PNKD) in 13 families of primarily European ancestry. | 16632198 | 2006 |
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|
0.820 | GeneticVariation | UNIPROT | Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. | 15824259 | 2005 |
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|
T | 0.820 | CausalMutation | CLINVAR | Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. | 15262732 | 2004 |
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|
T | 0.820 | CausalMutation | CLINVAR | The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. | 15496428 | 2004 |
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|
0.820 | GeneticVariation | UNIPROT | Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. | 15262732 | 2004 |