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GENE - TERM ANNOTATION REPORT

RGD ID: 736193
Species: Homo sapiens
RGD Object: Gene
Symbol: TSC2
Name: TSC complex subunit 2
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)
TSC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:28492532 PMID:33574475
TSC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:28492532
TSC2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseases 
TSC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:28492532 PMID:31785789
TSC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10090883 PMID:10205261 PMID:11112665 PMID:15121797 PMID:15798777 PMID:17304050 PMID:20633017 PMID:21510812 PMID:21520333 PMID:25741868 PMID:25782670 PMID:26467025 PMID:28065512 PMID:28492532
TSC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25741868 PMID:26467025 PMID:28492532
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