| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | disease | BEFREE | Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1) and congenital contractural arachnodactyly (mutation of FBN2). | 22921888 | 2012 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Mutational analysis of the FBN1 and FBN2 genes excluded Marfan syndrome and congenital contractural arachnodactyly. | 20560960 | 2010 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Their physiological importance is underscored by the complex spectrum of clinical manifestations associated with mutations of fibrillin-1 and fibrillin-2 in Marfan syndrome (MFS) and congenital contractural arachnodactyly, respectively. | 17708531 | 2007 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | The gene for fibrillin-2 (FBN2) is highly homologous to FBN1, and mutations in FBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly. | 10633129 | 2000 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly. | 10216958 | 1999 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillin; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly. | 8791520 | 1996 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Previous studies have mapped the human genes for two fibrillins to chromosome bands 15q21 (FBN1) and 5q23-q31 (FBN2) and have demonstrated that FBN1 mutations are associated with Marfan syndrome, while FBN2 is linked to the gene for congenital contractural arachnodactyly. | 8307578 | 1993 | ||||
|
0.170 | GeneticVariation | disease | CLINVAR |