Aortic Aneurysm Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (Human Disease Ontology, DOID_3627)
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Genes

12 genes associated with the Aortic Aneurysm phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
COL3A1 collagen, type III, alpha 1
FBN1 fibrillin 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
SMAD3 SMAD family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)