FBLN5, fibulin 5, 10516

N. diseases: 150; N. variants: 20
Disease: Cutis Laxa, Autosomal Recessive, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GermlineCausalMutation disease ORPHANET Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. 20007835 2010
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Biophysical characterisation of fibulin-5 proteins associated with disease. 20599547 2010
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 18185537 2008
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. 17035250 2006
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. 16691202 2006
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. 16652333 2006
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 GeneticVariation disease UNIPROT Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. 12189163 2002
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 CausalMutation disease CLINVAR
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type I 		0.700 Biomarker disease CTD_human