abnormal aorta tunica media morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers (Mammalian Phenotype Ontology, MP_0009873)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009873
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Genes

34 gene mutations causing the abnormal aorta tunica media morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACTA2 actin, alpha 2, smooth muscle, aorta
ATP7A ATPase, Cu++ transporting, alpha polypeptide
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CYBB cytochrome b-245, beta polypeptide
DES desmin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EMILIN1 elastin microfibril interfacer 1
FBLN5 fibulin 5
FBN1 fibrillin 1
HRAS Harvey rat sarcoma viral oncogene homolog
IDUA iduronidase, alpha-L-
KLF15 Kruppel-like factor 15
KLF2 Kruppel-like factor 2
LOX lysyl oxidase
MGP matrix Gla protein
MKL2 MKL/myocardin-like 2
MUS81 MUS81 structure-specific endonuclease subunit
PDGFB platelet-derived growth factor beta polypeptide
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PTGIS prostaglandin I2 (prostacyclin) synthase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
S1PR1 sphingosine-1-phosphate receptor 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMBIM1 transmembrane BAX inhibitor motif containing 1
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor