Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. 15254584

2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. 12598898

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. 9326947

1997
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN 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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker GENOMICS_ENGLAND