SYT2, synaptotagmin 2, 127833

N. diseases: 94; N. variants: 18
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. 30533528 2018
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. 30533528 2018
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.600 GeneticVariation disease UNIPROT Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 25192047 2014
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.600 CausalMutation disease CLINVAR