Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. | 16931511 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. | 12796535 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. | 12929188 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of pathogenic mutations in the human rapsyn gene. | 12730725 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. | 14504330 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. | 11791205 | 2002 |
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|
T | 0.800 | CausalMutation | CLINVAR |