BMP6, bone morphogenetic protein 6, 654

N. diseases: 137; N. variants: 10
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.330 Biomarker disease BEFREE The exploration of genetic hemochromatosis has revealed the involvement of several genes, including the recently described BMP6. 28694024 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.330 AlteredExpression disease BEFREE Hepatic expression of BMP6 was appropriately elevated in HFE-HH compared to controls (P = 0.02), likely related to iron overload. 20658468 2010
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.330 AlteredExpression disease BEFREE Notably, Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expression and tissue iron overload. 19252486 2009
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.330 Biomarker disease CTD_human BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. 19252486 2009
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.330 Biomarker disease CTD_human Lack of the bone morphogenetic protein BMP6 induces massive iron overload. 19252488 2009