Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | FBN1 mutations in patients with descending thoracic aortic dissections. | 20082464 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. | 11826022 | 2002 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. | 12203992 | 2002 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. | 11700157 | 2001 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. | 7762551 | 1995 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | A novel mutation of the fibrillin gene causing ectopia lentis. | 8188302 | 1994 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. | 8406497 | 1993 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. | 1301946 | 1992 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | GeneticVariation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human |