Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099 2014
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205 2002
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Unusual features in a boy with the rapsyn N88K mutation. 17190963 2006
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721 2014
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		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
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. 16931511 2006
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205 2002
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612 2009
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573 2011
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401 2007
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936 2006
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). 29054425 2017
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		T 0.750 CausalMutation CLINVAR Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. 14729848 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE 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
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. 16931511 2006