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GENE - TERM ANNOTATION REPORT

RGD ID: 69029
Species: Homo sapiens
RGD Object: Gene
Symbol: INSR
Name: insulin receptor
Acc ID: DOID:0111099
Term: maturity-onset diabetes of the young type 1
Definition: A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9294105 "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)
INSR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type 2 diabetes mellitusPMID:25741868 PMID:28492532 PMID:31989990
INSR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type 2 diabetes mellitusPMID:1607076 PMID:27896077 PMID:7814014
INSR IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type 2 diabetes mellitusPMID:10084586 PMID:11463381 PMID:2040394 PMID:25741868 PMID:27896077 PMID:28492532 PMID:8432414 PMID:8900242
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