BMP6, bone morphogenetic protein 6, 654

N. diseases: 137; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
0.020 Biomarker disease BEFREE Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. 27046124 2016
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
0.020 GeneticVariation disease BEFREE The iron burden in Bmp6 mutant mice is significantly greater than that in mice deficient in the gene associated with classical hemochromatosis (Hfe), suggesting that mutations in BMP6 might cause iron overload in humans with severe juvenile hemochromatosis for which the genetic basis has not yet been characterized. 19252488 2009