Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. 25975422

2015
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases. 22921888

2012
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. 19006240

2009
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Fibrillins 1 and 2 perform partially overlapping functions during aortic development. 16407178

2006
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. 9714438

1998
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker CLINGEN Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. 8120105

1994
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker GENOMICS_ENGLAND