abnormal aorta elastic fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity (Mammalian Phenotype Ontology, MP_0003211)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003211
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Genes

13 gene mutations causing the abnormal aorta elastic fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DES desmin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
FBLN5 fibulin 5
FBN1 fibrillin 1
IDUA iduronidase, alpha-L-
LOX lysyl oxidase
MGP matrix Gla protein
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)