aneurysm Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. (Human Phenotype Ontology, HP_0002617)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002617
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Genes

39 genes associated with the aneurysm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTA2 actin, alpha 2, smooth muscle, aorta
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BRAF B-Raf proto-oncogene, serine/threonine kinase
CECR1 cat eye syndrome chromosome region, candidate 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ENG endoglin
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FBLN5 fibulin 5
FBN1 fibrillin 1
GAA glucosidase, alpha; acid
HLA-B major histocompatibility complex, class I, B
IL12B interleukin 12B
LRP5 low density lipoprotein receptor-related protein 5
MED12 mediator complex subunit 12
MLX MLX, MAX dimerization protein
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
OFD1 oral-facial-digital syndrome 1
PCNT pericentrin
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKP2 plakophilin 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PRKCSH protein kinase C substrate 80K-H
PRKG1 protein kinase, cGMP-dependent, type I
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RYR2 ryanodine receptor 2 (cardiac)
SEC63 SEC63 homolog (S. cerevisiae)
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2