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GENE - TERM ANNOTATION REPORT

RGD ID: 3845
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tf
Name: transferrin
Acc ID: DOID:0050649
Term: atransferrinemia
Definition: A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Atransferrinemia "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29969719 "DO" "DO", https://www.omim.org/entry/209300 "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)
Tf ISOTF (Homo sapiens)7240710OMIM  
Tf ISOTF (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11110675 PMID:12111369
Tf ISOTF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemiaPMID:11110675 PMID:11703331 PMID:11920219 PMID:12111369 PMID:12752114 PMID:15060098 PMID:15466165 PMID:16398662 PMID:17768112 PMID:17809412 PMID:20029940 PMID:21665994 PMID:25741868 PMID:25773295 PMID:28492532 PMID:34828384 PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 PMID:9272172
Tf ISSTrf (Mus musculus)13592920MouseDOOMIM:209300 
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