Cavernous Hemangioma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0752161
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACVRL1 activin A receptor type II-like 1
ALX3 ALX homeobox 3
ANGPT2 angiopoietin 2
AOC1 amine oxidase, copper containing 1
B3GAT1 beta-1,3-glucuronyltransferase 1
C17ORF97 chromosome 17 open reading frame 97
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CCM2 cerebral cavernous malformation 2
CD14 CD14 molecule
CD58 CD58 molecule
CDC42 cell division cycle 42
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLDN5 claudin 5
COL4A2 collagen, type IV, alpha 2
COX2
CRISP2 cysteine-rich secretory protein 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTTN cortactin
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DBNL drebrin-like
DLL4 delta-like 4 (Drosophila)
ELN elastin
EMP1 epithelial membrane protein 1
ENG endoglin
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
EPO erythropoietin
EXOSC3 exosome component 3
F3 coagulation factor III (thromboplastin, tissue factor)
FGFR1 fibroblast growth factor receptor 1
FLT1 fms-related tyrosine kinase 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GLO1 glyoxalase I
HEG1 heart development protein with EGF-like domains 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HP haptoglobin
HSF1 heat shock transcription factor 1
ICAM1 intercellular adhesion molecule 1
IL6 interleukin 6
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB1BP1 integrin beta 1 binding protein 1
KLF2 Kruppel-like factor 2
KLF4 Kruppel-like factor 4 (gut)
KLK3 kallikrein-related peptidase 3
KRIT1 KRIT1, ankyrin repeat containing
KRT20 keratin 20, type I
LCN2 lipocalin 2
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MAPK7 mitogen-activated protein kinase 7
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MSH2 mutS homolog 2
MUC2 mucin 2, oligomeric mucus/gel-forming
NCAM1 neural cell adhesion molecule 1
NF2 neurofibromin 2 (merlin)
NFE2L2 nuclear factor, erythroid 2-like 2
NPEPPS aminopeptidase puromycin sensitive
OCLN occludin
OSM oncostatin M
PDCD10 programmed cell death 10
PECAM1 platelet/endothelial cell adhesion molecule 1
PGF placental growth factor
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAG1 pleiomorphic adenoma gene 1
PON1 paraoxonase 1
POU3F3 POU class 3 homeobox 3
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PROS1 protein S (alpha)
PRRT2 proline-rich transmembrane protein 2
PRSS55 protease, serine, 55
PSAT1 phosphoserine aminotransferase 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PYCARD PYD and CARD domain containing
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RLN1 relaxin 1
RLN2 relaxin 2
RLN3 relaxin 3
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RXRA retinoid X receptor, alpha
S100A10 S100 calcium binding protein A10
S100A11 S100 calcium binding protein A11
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SPZ1 spermatogenic leucine zipper 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STS steroid sulfatase (microsomal), isozyme S
TEK TEK tyrosine kinase, endothelial
TERF2IP telomeric repeat binding factor 2, interacting protein
THBS1 thrombospondin 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TP53 tumor protein p53
TSC2 tuberous sclerosis 2
ULK1 unc-51 like autophagy activating kinase 1
VEGFA vascular endothelial growth factor A
VIM vimentin
ZPLD1 zona pellucida-like domain containing 1