Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
Congenital Myasthenic Syndromes, Presynaptic
0.510 GermlineCausalMutation ORPHANET In addition, mutations in the Synaptotagmin 2 C2B domain represent an important cause of presynaptic congenital myasthenic syndromes and link them with hereditary motor axonopathies. 25192047

2014