aortic aneurysm Gene Set

Dataset MPO 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)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006278
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Genes

14 gene mutations causing the aortic aneurysm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBN1 fibrillin 1
KLF15 Kruppel-like factor 15
LOX lysyl oxidase
MKL2 MKL/myocardin-like 2
MMP9 matrix metallopeptidase 9
MUS81 MUS81 structure-specific endonuclease subunit
PKD1 polycystic kidney disease 1 (autosomal dominant)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3