Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721 2014
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. 22678886 2012
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573 2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724 2010
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612 2009
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612 2009
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401 2007
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease CLINVAR Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401 2007
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Unusual features in a boy with the rapsyn N88K mutation. 17190963 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. 16931511 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. 15286164 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 Biomarker disease GENOMICS_ENGLAND Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 GeneticVariation disease UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.600 CausalMutation disease CLINVAR Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003