Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. | 24319099 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. | 25194721 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Carrier testing for severe childhood recessive diseases by next-generation sequencing. | 21228398 | 2011 |
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|
T | 0.800 | CausalMutation | CLINVAR | Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. | 21305573 | 2011 |
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|
T | 0.800 | CausalMutation | CLINVAR | Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. | 20157724 | 2010 |
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|
T | 0.800 | CausalMutation | CLINVAR | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. | 19620612 | 2009 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. | 19620612 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. | 17594401 | 2007 |
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|
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 | Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. | 16931511 | 2006 |
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|
T | 0.800 | CausalMutation | CLINVAR | Unusual features in a boy with the rapsyn N88K mutation. | 17190963 | 2006 |
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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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|
T | 0.800 | CausalMutation | CLINVAR | Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. | 16945936 | 2006 |
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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 | Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. | 16931511 | 2006 |
||||
|
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 | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
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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 |