HJV, hemojuvelin BMP co-receptor, 148738

N. diseases: 71; N. variants: 22
Disease: Hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.120 Biomarker disease 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: C0020619
Disease: Hypogonadism
Hypogonadism 		0.120 GeneticVariation disease BEFREE This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications. 15315789 2005
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.120 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.120 CausalMutation disease CLINVAR