HJV, hemojuvelin BMP co-receptor, 148738

N. diseases: 71; N. variants: 22
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 Biomarker group BEFREE HJV and HAMP HH are phenotypically and clinically very similar and have the most severe presentation, with cardiomyopathy and hypogonadism being particularly prevalent findings. 29743178 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation group LHGDN A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis. 18725184 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation group BEFREE A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis. 18725184 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.030 GeneticVariation group LHGDN Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. 15611318 2005