abnormal aorta elastic tissue morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall (Mammalian Phenotype Ontology, MP_0009862)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009862
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Genes

20 gene mutations causing the abnormal aorta elastic tissue 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)
DES desmin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
EMILIN1 elastin microfibril interfacer 1
FBLN5 fibulin 5
FBN1 fibrillin 1
IDUA iduronidase, alpha-L-
LOX lysyl oxidase
MGP matrix Gla protein
MUS81 MUS81 structure-specific endonuclease subunit
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
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