FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aneurysm of ascending aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.130 GeneticVariation phenotype BEFREE We provide evidence that aortic root AAD has a stronger genetic etiology, sometimes related to identified common non-coding fibrillin-1 (<i>FBN1</i>) variants and other aortic wall protein variants in patients with BAV. 28993736 2017
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.130 GeneticVariation phenotype BEFREE Thus, minor alleles of FBN1 SNPs studied were significantly associated with aortic dissection with odds ratios (ORs) 2.59-2.13, P < 0.001, while SNPs rs2118181 and rs1036477 with an increased risk of ascending aortic aneurysm [OR 1.67, confidence interval (CI) 95% 1.61-2.40]. 25583878 2015
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.130 GeneticVariation phenotype BEFREE 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
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.130 CausalMutation phenotype CLINVAR
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.130 Biomarker phenotype HPO