FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.010 GeneticVariation phenotype BEFREE Missense mutations in fibulin 5 cause the elastin disorder cutis laxa and have been associated with age-related macular degeneration, a leading cause of blindness. 19617354 2009