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GENE - TERM ANNOTATION REPORT

RGD ID: 1310152
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tfr2
Name: transferrin receptor 2
Acc ID: DOID:0111030
Term: hemochromatosis type 3
Definition: A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10802645 "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)
Tfr2 IAGP 150520058RGDDNA:missense mutation:cds:Ala679Gly (rat) 
Tfr2 ISOTFR2 (Homo sapiens)7240710OMIM  
Tfr2 ISOTFR2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tfr2 ISOTFR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hemochromatosis due to defect in transferrin receptor 2 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 PMID:12130528 PMID:12150153 PMID:14633868 PMID:15147384 PMID:15749661 PMID:16199547 PMID:16424658 PMID:16838333 PMID:16923517 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21524769 PMID:21770687 PMID:22890139 PMID:22981443 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:27667161 PMID:27896572 PMID:28276324 PMID:28492532 PMID:34946929 PMID:35462491 PMID:9536098
Tfr2 ISSTfr2 (Mus musculus)13592920MouseDOOMIM:604250 
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