ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
0.010 Biomarker disease BEFREE There is also a correspondence between TIMP-3 and elastin immunoreactivies, which invites speculation as to a link between the SFD TIMP-3 mutation and altered elastin processing. 10711711 2000