SNAP25, synaptosome associated protein 25, 6616

N. diseases: 283; N. variants: 15
Disease: Congenital Myasthenic Syndromes, Presynaptic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 25792100 2015
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. 25381298 2014
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human