abnormal aorta wall morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the part of the aorta that encloses the luminal space (Mammalian Phenotype Ontology, MP_0009866)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009866
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Genes

40 gene mutations causing the abnormal aorta wall 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
APOE apolipoprotein E
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
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HRAS Harvey rat sarcoma viral oncogene homolog
IDUA iduronidase, alpha-L-
KLF15 Kruppel-like factor 15
KLF2 Kruppel-like factor 2
KLF5 Kruppel-like factor 5 (intestinal)
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
PEPD peptidase D
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
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP3 TIMP metallopeptidase inhibitor 3
TMBIM1 transmembrane BAX inhibitor motif containing 1
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor