Gene: RAPSN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 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 		0.400 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 		0.400 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 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 18179903 2008
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Unusual features in a boy with the rapsyn N88K mutation. 17190963 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 14659409 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 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 		0.400 CausalMutation disease CLINVAR Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205 2002