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GENE - TERM ANNOTATION REPORT

RGD ID: 1550218
Species: Mus musculus
RGD Object: Gene
Symbol: Hamp
Name: hepcidin antimicrobial peptide
Acc ID: DOID:0111032
Term: hemochromatosis type 2B
Definition: A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12469120 "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)
Hamp ISOHAMP (Homo sapiens)7240710OMIM  
Hamp ISOHAMP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Hamp ISOHAMP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hemochromatosis type 2BPMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 PMID:19214511 PMID:21088809 PMID:22297252 PMID:22924847 PMID:25326637 PMID:25741868 PMID:27007796 PMID:28492532 PMID:33016646
Hamp IAGP 13592920MouseDOOMIM:613313 
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