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GENE - TERM ANNOTATION REPORT

RGD ID: 61838
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tgm1
Name: transglutaminase 1
Acc ID: DOID:0070014
Term: autosomal dominant dyskeratosis congenita 1
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11574891 "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)
Tgm1 ISOTGM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532
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