FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.300 Biomarker phenotype CTD_human Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163 2002