aortic dilatation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001724
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Genes

54 genes associated with the aortic dilatation 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
B3GAT3 beta-1,3-glucuronyltransferase 3
BCR breakpoint cluster region
C12ORF57 chromosome 12 open reading frame 57
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
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
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
HGD homogentisate 1,2-dioxygenase
HLA-B major histocompatibility complex, class I, B
IL12B interleukin 12B
KANSL1 KAT8 regulatory NSL complex subunit 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MLX MLX, MAX dimerization protein
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
NOD2 nucleotide-binding oligomerization domain containing 2
PRKG1 protein kinase, cGMP-dependent, type I
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
ZMPSTE24 zinc metallopeptidase STE24