Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
0.300 Biomarker disease GENOMICS_ENGLAND Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 11435464 2001