HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: Iron Overload ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200488037
rs200488037
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system. 22297252 2012
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated. 21411349 2011