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GENE - TERM ANNOTATION REPORT

RGD ID: 8792970
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Syngap1
Name: synaptic Ras GTPase activating protein 1
Acc ID: DOID:0070035
Term: autosomal dominant intellectual developmental disorder 5
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19196676 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Syngap1 ISOSYNGAP1 (Homo sapiens)7240710OMIM  
Syngap1 ISOSYNGAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related condition | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathyPMID:16199547 PMID:17576681 PMID:18414213 PMID:19196676 PMID:20683986 PMID:21237447 PMID:21376300 PMID:22692543 PMID:23161826 PMID:23687080 PMID:23708187 PMID:24690944 PMID:25167861 PMID:25186178 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25418537 PMID:25533962 PMID:25640679 PMID:25693842 PMID:25741868 PMID:25852444 PMID:26079862 PMID:26467025 PMID:26989088 PMID:27159028 PMID:27334371 PMID:28135719 PMID:28333917 PMID:28492532 PMID:28554332 PMID:28576131 PMID:28600779 PMID:28708303 PMID:29390993 PMID:29758562 PMID:29778030 PMID:30440138 PMID:30455457 PMID:30541864 PMID:30577886 PMID:30581057 PMID:30901256 PMID:30945278 PMID:31349857 PMID:31395010 PMID:31440721 PMID:31554424 PMID:31572294 PMID:31981491 PMID:32238909 PMID:32730690 PMID:32959227 PMID:33308442 PMID:33639450 PMID:34580403 PMID:34782754 PMID:34948243 PMID:35814954 PMID:37149717 PMID:9536098
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