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: C0282193
Disease: Iron Overload
Iron Overload 		0.390 AlteredExpression disease BEFREE Liver volume, peripheral hemogram, bone marrow pathology, serum iron, serum ferritin, pathological iron deposition in multiple organs (liver, bone marrow, spleen), liver hepcidin, and bone morphogenetic protein 6 (BMP6), SMAD family member 4 (SMAD4) and transferrin receptor 2 (TfR2) mRNA expression levels were compared among the normal control, AA, iron overload and composite model groups to validate the composite model, and explore the pathogenesis and features of iron overload in this model. 29434729 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 GeneticVariation disease BEFREE Our data suggest that assignment of disease causation in clinical cases of iron overload to pro-peptide variants in BMP6 should thus be treated with caution and requires biological characterization. 29695288 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 Biomarker disease BEFREE The patients' clinical phenotypes were similar to that of other patients with BMP6-related IO recently described. 28335084 2017
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 Biomarker disease GENOMICS_ENGLAND We identified 3 heterozygous missense mutations in BMP6 in patients with unexplained iron overload. 26582087 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 AlteredExpression disease BEFREE Influence of excess iron and BMP6 on GPR91 expression was investigated in ARPE-19 cells, and wild-type and Hjv(-/-) pRPE cells. 27046124 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 GeneticVariation disease BEFREE We identified 3 heterozygous missense mutations in BMP6 in patients with unexplained iron overload. 26582087 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 AlteredExpression disease BEFREE The data suggested that liver iron overload was an important stimuli for hepcidin synthesis, stronger than the inhibitory effect of high rHuEPO doses; moreover, the findings raised the hypothesis that when high inflammation (triggering hepcidin expression) was associated with increased iron stores in hemodialysis patients, hepcidin expression was also upregulated via BMP6, enhancing hepcidin synthesis, leading, therefore, to worsening of anemia and, eventually, to a hyporesponse/resistance to rHuEPO therapy.© 2016 BioFactors, 42(3):296-306, 2016. 26990350 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 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: C0282193
Disease: Iron Overload
Iron Overload 		0.390 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
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.390 AlteredExpression disease BEFREE Notably, Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expression and tissue iron overload. 19252486 2009
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease BEFREE Endothelial Bmp2 knockout exacerbates hemochromatosis in Hfe knockout mice but not Bmp6 knockout mice. 31778583 2019
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease BEFREE Loss of Bmp6 in ECs recapitulated the hemochromatosis phenotype of global Bmp6 knockout mice, whereas hepatocyte and macrophage Bmp6 conditional knockout mice exhibited no iron phenotype. 27864295 2017
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 GeneticVariation disease BEFREE We sequenced the BMP6 gene in 70 consecutive patients with a moderate increase in serum ferritin and liver iron levels who did not carry genetic variants associated with hemochromatosis. 26582087 2016
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease BEFREE G-protein-coupled receptor 91 is a BMP6 target and Hjv deletion enhances BMP signaling in retina, thus underscoring a role for excess iron and hemochromatosis in abnormal retinal vascularization. 27046124 2016
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease CTD_human Notably, Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expression and tissue iron overload. 19252486 2009
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 Biomarker disease CTD_human 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
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.350 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
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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 PosttranslationalModification disease BEFREE The study revealed BMP6 hypermethylation in 34 of 85 tumor specimens (40%), and 15 out of 45 normal tissue samples from CRC (33%). 25227796 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 AlteredExpression disease BEFREE We further confirmed that BMP6 activity could be used as a prognostic indicator in prostate, bladder and colorectal cancers, using publicly available data on BMP6, noggin and SOST mRNA expression and patient survival. 22364398 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT