aortic aneurysm Gene Set

Dataset HPO Gene-Disease 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)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004942
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Genes

11 genes associated with the aortic aneurysm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBLN5 fibulin 5
FBN1 fibrillin 1
MED12 mediator complex subunit 12
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
PRKG1 protein kinase, cGMP-dependent, type I
SMAD3 SMAD family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)