Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, 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: rs775587809
rs775587809
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. 23326516 2013
dbSNP: rs775587809
rs775587809
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. 20371544 2010
dbSNP: rs775587809
rs775587809
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. 19949040 2009
dbSNP: rs775587809
rs775587809
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 GeneticVariation UNIPROT MUSK, a new target for mutations causing congenital myasthenic syndrome. 15496425 2004
dbSNP: rs551423795
rs551423795
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs756877019
rs756877019
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs879255561
rs879255561
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C4225368
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		AC 0.700 CausalMutation CLINVAR