Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Disease Term Disease ID Gene Symbol Classification References Source
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225373 CHRNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 616314 -
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225370 CHRND Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11435464, 16916845, 18398509 -
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225368 MUSK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15496425, 19949040, 20371544, 23326516, 24183479, 25612909 -
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY C4225367 RAPSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11791205, 12730725, 12796535, 12807980, 12929188, 14504330, 15036330, 15286164, 15328566, 16931511, 16945936, 17190963, 17594401, 19620612, 20157724, 21228398, 21305573, 22678886, 24319099, 25194721 -