aortic dissection Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. (Human Phenotype Ontology, HP_0002647)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004044
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
FBN1 fibrillin 1
MUS81 MUS81 structure-specific endonuclease subunit
NPR1 natriuretic peptide receptor 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)