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GENE - TERM ANNOTATION REPORT

RGD ID: 2635
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fth1
Name: ferritin heavy chain 1
Acc ID: DOID:0111031
Term: hemochromatosis type 5
Definition: A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11389486 "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)
Fth1 ISOFTH1 (Homo sapiens)7240710OMIM  
Fth1 ISOFTH1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fth1 ISOFTH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hemochromatosis type 5PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532
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