DisGeNET - a database of gene-disease associations

RAPSN, receptor associated protein of the synapse, 5913

N. diseases: 121; N. variants: 21

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

24319099

2014

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

25194721

2014

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

21305573

2011

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

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

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

19620612

2009

dbSNP:

rs121909254

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

CLINVAR

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

19620612

2009

dbSNP:

rs104894293

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:

rs104894294

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

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:

rs104894300

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:

rs121909254

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

CLINVAR

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

17594401

2007

dbSNP:

rs121909254

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:

rs121909255

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:

rs104894293

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:

rs104894294

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

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Unusual features in a boy with the rapsyn N88K mutation.

17190963

2006

dbSNP:

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

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

16945936

2006

dbSNP:

rs104894300

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:

rs121909254

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:

rs121909255

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:

rs104894293

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:

rs104894293

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:

rs104894294

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