Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation ORPHANET Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 25792100

2015
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation ORPHANET Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. 25381298

2014