MMP12, matrix metallopeptidase 12, 4321

N. diseases: 216; N. variants: 12
Disease: Hereditary Multiple Exostoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.020 GeneticVariation disease BEFREE We report a mouse model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as multiple hereditary exostoses (MHE or HME) and characterized by the formation of cartilage-capped osseous growths projecting from the metaphyses of endochondral bones. 20080592 2010
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.020 Biomarker disease BEFREE Multiple osteochondromas (MO; also referred to as hereditary multiple exostoses [HME] in the literature) is an autosomal dominant disorder characterized by benign, cartilage-capped bone tumors that grow from the metaphyses of long bones. 18976157 2008