SNAP25, synaptosome associated protein 25, 6616

N. diseases: 283; N. variants: 15
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		0.600 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: recent advances. 27472506 2016
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		0.600 GeneticVariation disease UNIPROT Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. 25381298 2014
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		0.600 CausalMutation disease CLINVAR