ELN, elastin, 2006

N. diseases: 24; N. variants: 42
Disease: Cutis Laxa ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.700 Biomarker disease CTD_human Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163 2002
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.700 Biomarker disease GENOMICS_ENGLAND Impaired distal airway development in mice lacking elastin. 10970822 2000