ECM1, extracellular matrix protein 1, 1893

N. diseases: 120; N. variants: 17
Disease: Malattia Leventinese ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852020
Disease: Malattia Leventinese
Malattia Leventinese 		0.010 GeneticVariation disease BEFREE An Arg345Trp (R345W) mutation in epidermal growth factor-containing, fibulin-like extracellular matrix protein 1 (EFEMP1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). 22031286 2011