| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. | 22829427 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. | 20007835 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Biophysical characterisation of fibulin-5 proteins associated with disease. | 20599547 | 2010 | ||||
|
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 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. | 17035250 | 2006 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. | 16691202 | 2006 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. | 16652333 | 2006 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. | 12189163 | 2002 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. | 19664000 | 2009 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. | 16685658 | 2006 |