Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | SYNGAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20531469 | autosomal dominant intellectual developmental disorder 5 | | ISO | SYNGAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | epilepsy | | ISO | SYNGAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23708187 and PMID:29942082 | intellectual disability | | ISO | SYNGAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21076407 | Neurodevelopmental Disorders | | ISO | SYNGAP1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28191889 and PMID:29942082 | |