HPX, hemopexin, 3263

N. diseases: 76; N. variants: 1
Disease: Hajdu-Cheney Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		0.010 GeneticVariation disease BEFREE A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. 18985071 2009