FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Cutis Laxa, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.500 GermlineCausalMutation disease ORPHANET Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 12618961 2003
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.500 Biomarker disease CTD_human