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GENE - TERM ANNOTATION REPORT

RGD ID: 18773663
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SYNJ1
Name: synaptojanin 1
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
SYNJ1 ISOSYNJ1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:11413010 PMID:25741868 PMID:26467025 PMID:27393345 PMID:27435091 PMID:28421333 PMID:28492532 PMID:35861376
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