DisGeNET - a database of gene-disease associations

CHRNA1, cholinergic receptor nicotinic alpha 1 subunit, 1134

N. diseases: 109; 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:

rs137852809

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C1854678
Disease:

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

18252226

2008

dbSNP:

rs137852798

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852799

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852800

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852801

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852802

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852803

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852808

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

16685696

2006

dbSNP:

rs137852804

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

15079006

2004

dbSNP:

rs137852805

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

15079006

2004

dbSNP:

rs137852806

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

15079006

2004

dbSNP:

rs137852807

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

15079006

2004

dbSNP:

rs137852804

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

12588888

2003

dbSNP:

rs137852805

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

12588888

2003

dbSNP:

rs137852806

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

12588888

2003

dbSNP:

rs137852807

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

12588888

2003

dbSNP:

rs137852804

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

10195214

1999

dbSNP:

rs137852805

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

10195214

1999

dbSNP:

rs137852806

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

10195214

1999

dbSNP:

rs137852807

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4225405
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL

0.800

GeneticVariation

UNIPROT

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating.

10195214

1999

dbSNP:

rs137852798

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

9221765

1997

dbSNP:

rs137852798

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

9158151

1997

dbSNP:

rs137852799

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

9221765

1997

dbSNP:

rs137852799

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.

9158151

1997

dbSNP:

rs137852800

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C4084823
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL

0.800

GeneticVariation

UNIPROT

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

9221765

1997