aortic dissection Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0002647
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Genes

29 genes associated with the aortic dissection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COX1
COX2
COX3
FBN1 fibrillin 1
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
ND1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)