Aneurysm Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. (Human Phenotype Ontology, HP_0002617)
External Link https://www.disgenet.org/browser/0/1/0/C0740385
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Genes

121 genes associated with the disease Aneurysm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACSM3 acyl-CoA synthetase medium-chain family member 3
ACTA2 actin, alpha 2, smooth muscle, aorta
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALB albumin
ANGPTL4 angiopoietin-like 4
ANGPTL6 angiopoietin-like 6
ANTXR2 anthrax toxin receptor 2
APOE apolipoprotein E
ARSA arylsulfatase A
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CAT catalase
CBS cystathionine-beta-synthase
CD40LG CD40 ligand
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
CRP C-reactive protein, pentraxin-related
CXCL8 chemokine (C-X-C motif) ligand 8
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOCK3 dedicator of cytokinesis 3
EDN1 endothelin 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ENG endoglin
FARSB phenylalanyl-tRNA synthetase, beta subunit
FBN1 fibrillin 1
FBN2 fibrillin 2
FN1 fibronectin 1
FOXE3 forkhead box E3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA5 GATA binding protein 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ICAM1 intercellular adhesion molecule 1
IL1B interleukin 1, beta
IL6 interleukin 6
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KIAA0195 KIAA0195
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LOX lysyl oxidase
LOXL1 lysyl oxidase-like 1
MAT2A methionine adenosyltransferase II, alpha
MED1 mediator complex subunit 1
MFAP5 microfibrillar associated protein 5
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
MYPN myopalladin
NCF1 neutrophil cytosolic factor 1
NDE1 nudE neurodevelopment protein 1
NF1 neurofibromin 1
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOX4 NADPH oxidase 4
NT5C3A 5'-nucleotidase, cytosolic IIIA
OCA2 oculocutaneous albinism II
P4HB prolyl 4-hydroxylase, beta polypeptide
PACS1 phosphofurin acidic cluster sorting protein 1
PEA15 phosphoprotein enriched in astrocytes 15
PEBP1 phosphatidylethanolamine binding protein 1
PHACTR1 phosphatase and actin regulator 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POR P450 (cytochrome) oxidoreductase
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKG1 protein kinase, cGMP-dependent, type I
REN renin
RERE arginine-glutamic acid dipeptide (RE) repeats
RFC2 replication factor C (activator 1) 2, 40kDa
RNASE13 ribonuclease, RNase A family, 13 (non-active)
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SKI SKI proto-oncogene
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
SMAD6 SMAD family member 6
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPATC1L spermatogenesis and centriole associated 1-like
TBL2 transducin (beta)-like 2
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TUBA4A tubulin, alpha 4a
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VSIR V-set immunoregulatory receptor
WIPF1 WAS/WASL interacting protein family, member 1
XYLT2 xylosyltransferase II