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GENE - TERM ANNOTATION REPORT

RGD ID: 737465
Species: Homo sapiens
RGD Object: Gene
Symbol: CTLA4
Name: cytotoxic T-lymphocyte associated protein 4
Acc ID: DOID:0110751
Term: type 1 diabetes mellitus 12
Definition: A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8817351 "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)
CTLA4susceptibilityIAGP 7240710OMIM  
CTLA4 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CTLA4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type 1 diabetes mellitus 12PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30377434 PMID:30940614
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