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:

rs104894293

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

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

0.800

CausalMutation

CLINVAR

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:

rs104894293

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:

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

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

11791205

2002

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:

rs104894293

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:

rs104894293

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:

rs104894293

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:

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

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

11791205

2002

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

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:

rs104894294

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:

rs104894294

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:

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:

rs104894294

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

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

0.800

CausalMutation

CLINVAR

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

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

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

12929188

2003

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

Identification of pathogenic mutations in the human rapsyn gene.

12730725

2003

dbSNP:

rs104894294

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0026848
Disease:

Myopathy

0.700

GeneticVariation

CLINVAR

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

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

15286164

2004

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

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

12796535

2003

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

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

12929188

2003

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 due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

15328566

2004