HEPH, hephaestin, 9843

N. diseases: 27; N. variants: 10
Disease: Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002871
Disease: Anemia
Anemia 		0.030 GeneticVariation disease BEFREE Deletion or mutation of the hephaestin gene leads to systemic anemia with iron accumulation in the intestinal epithelium. 28880952 2017
CUI: C0002871
Disease: Anemia
Anemia 		0.030 Biomarker disease BEFREE Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse. 14724150 2004
CUI: C0002871
Disease: Anemia
Anemia 		0.030 Biomarker disease BEFREE Gene mapping studies in animal mutants with anaemia due to defects in the uptake or tissue transfer of iron have yielded novel proteins involved in iron transport: DMT1 (brush border transporter of ferrous iron) in the mk/mk mouse, hephaestin (basolateral multi-copper ferroxidase) in the sex-linked anaemic mouse (sla) and ferroportin1 (basolateral iron exporter) in zebrafish weh mutants. 11005792 2000