Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | ||||
|
0.910 | Biomarker | disease | MGD | Microenvironmental regulation by fibrillin-1. | 22242013 | 2012 | ||||
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | FBN1 mutations in patients with descending thoracic aortic dissections. | 20082464 | 2010 | ||||
|
0.910 | GeneticVariation | disease | BEFREE | In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. | 12525539 | 2003 | ||||
|
0.910 | 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 | ||||
|
0.910 | 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 | ||||
|
0.910 | Biomarker | disease | GENOMICS_ENGLAND | Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. | 1301946 | 1992 | ||||
|
0.910 | Biomarker | disease | CTD_human | |||||||
|
0.910 | GeneticVariation | disease | CLINVAR | |||||||
|
0.910 | CausalMutation | disease | CLINVAR | |||||||
|
0.910 | GeneticVariation | disease | ORPHANET | |||||||
|
0.500 | Biomarker | disease | MGD | ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. | 30060141 | 2018 | ||||
|
0.500 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human |