MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Disease: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406723
Disease: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy 		0.010 AlteredExpression disease BEFREE Furthermore, the loss of MMP2 activity suggests that fibrotic skin abnormalities in GAPO syndrome are, in part, the consequence of pathophysiological mechanisms underlying syndromes (NAO, Torg and Winchester) with multicentric skin nodulosis and osteolysis caused by homozygous loss-of-function mutations in MMP2. 25572963 2015