Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. | 18398509 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. | 18398509 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. | 18398509 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. | 12499478 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. | 12499478 | 2002 |
||||
|
0.800 | GeneticVariation | UNIPROT | Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. | 12499478 | 2002 |
||||
|
0.800 | GeneticVariation | UNIPROT | Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. | 11435464 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. | 11435464 | 2001 |
||||
|
0.800 | GeneticVariation | UNIPROT | Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. | 11435464 | 2001 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |