SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease GENOMICS_ENGLAND SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247 2011
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 GermlineCausalMutation disease ORPHANET Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377 2004
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 GeneticVariation disease CLINVAR
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease CTD_human
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 CausalMutation disease CLINVAR
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease GENOMICS_ENGLAND