Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
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|
T | 0.800 | CausalMutation | CLINVAR | The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. | 15286164 | 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 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. | 12929188 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Identification of pathogenic mutations in the human rapsyn gene. | 12730725 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. | 14504330 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. | 12796535 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. | 12796535 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. | 14504330 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. | 12929188 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Identification of pathogenic mutations in the human rapsyn gene. | 12730725 | 2003 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. | 12796535 | 2003 |
|||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. | 12929188 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Identification of pathogenic mutations in the human rapsyn gene. | 12730725 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. | 14504330 | 2003 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. | 12807980 | 2003 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. | 12929188 | 2003 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. | 14504330 | 2003 |