DisGeNET - a database of gene-disease associations

MUSK, muscle associated receptor tyrosine kinase, 4593

N. diseases: 146; N. variants: 16

Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY ×

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:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

24183479

2014

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

24183479

2014

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

24183479

2014

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

24183479

2014

dbSNP:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

23326516

2013

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

23326516

2013

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

23326516

2013

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

23326516

2013

dbSNP:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

20371544

2010

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

20371544

2010

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

20371544

2010

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

20371544

2010

dbSNP:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

19949040

2009

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

19949040

2009

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

19949040

2009

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

19949040

2009

dbSNP:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

MUSK, a new target for mutations causing congenital myasthenic syndrome.

15496425

2004

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

MUSK, a new target for mutations causing congenital myasthenic syndrome.

15496425

2004

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

MUSK, a new target for mutations causing congenital myasthenic syndrome.

15496425

2004

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

GeneticVariation

UNIPROT

MUSK, a new target for mutations causing congenital myasthenic syndrome.

15496425

2004

dbSNP:

rs199476083

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906803

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs397515450

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs766640370

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.800

CausalMutation

CLINVAR

dbSNP:

rs775587809

Entrez Id:	4593
Gene Symbol:	MUSK

MUSK

CUI:	C4225368
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.700

GeneticVariation

UNIPROT

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

24183479

2014