Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY ×
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 		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 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 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 		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 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 		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 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 		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 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936 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 The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. 15286164 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 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 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 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 		T 0.800 CausalMutation CLINVAR 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 		0.800 GeneticVariation UNIPROT 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 		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 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 		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 		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 		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 GeneticVariation CLINVAR