Hemangioma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. (Human Disease Ontology, DOID_255)
External Link https://www.disgenet.org/browser/0/1/0/C0685201
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Genes

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

Symbol Name
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAR adenosine deaminase, RNA-specific
AGGF1 angiogenic factor with G patch and FHA domains 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIF1 allograft inflammatory factor 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANTXR1 anthrax toxin receptor 1
AQP1 aquaporin 1 (Colton blood group)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARR3 arrestin 3, retinal (X-arrestin)
ATF4 activating transcription factor 4
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BIN1 bridging integrator 1
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTK Bruton agammaglobulinemia tyrosine kinase
C1GALT1C1 C1GALT1-specific chaperone 1
CALR calreticulin
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCL2 chemokine (C-C motif) ligand 2
CCM2 cerebral cavernous malformation 2
CCND1 cyclin D1
CD14 CD14 molecule
CD274 CD274 molecule
CD34 CD34 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDON cell adhesion associated, oncogene regulated
CHRM3 cholinergic receptor, muscarinic 3
CIB2 calcium and integrin binding family member 2
CIZ1 CDKN1A interacting zinc finger protein 1
CLU clusterin
CNTNAP1 contactin associated protein 1
COL18A1 collagen, type XVIII, alpha 1
CPLX1 complexin 1
CTBP1 C-terminal binding protein 1
CTSA cathepsin A
CXADR coxsackie virus and adenovirus receptor
CXCL8 chemokine (C-X-C motif) ligand 8
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DLL1 delta-like 1 (Drosophila)
DNM2 dynamin 2
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DUSP5 dual specificity phosphatase 5
EBI3 Epstein-Barr virus induced 3
ELANE elastase, neutrophil expressed
EMCN endomucin
ENG endoglin
EPHB2 EPH receptor B2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERVW-1 endogenous retrovirus group W, member 1
FABP4 fatty acid binding protein 4, adipocyte
FAM69A family with sequence similarity 69, member A
FGF2 fibroblast growth factor 2 (basic)
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFRL1 fibroblast growth factor receptor-like 1
FKBP11 FK506 binding protein 11, 19 kDa
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXA2 forkhead box A2
FOXH1 forkhead box H1
FOXO1 forkhead box O1
GAS1 growth arrest-specific 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA6 GATA binding protein 6
GDF2 growth differentiation factor 2
GDNF glial cell derived neurotrophic factor
GFI1 growth factor independent 1 transcription repressor
GLI2 GLI family zinc finger 2
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNA14 guanine nucleotide binding protein (G protein), alpha 14
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GSDMD gasdermin D
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGA1 high mobility group AT-hook 1
HMGB1 high mobility group box 1
HOMER1 homer scaffolding protein 1
HOXD10 homeobox D10
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFBP3 insulin-like growth factor binding protein 3
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1B interleukin 1, beta
IL6 interleukin 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG1 jagged 1
JAK2 Janus kinase 2
KAT6A K(lysine) acetyltransferase 6A
KDM6B lysine (K)-specific demethylase 6B
KDR kinase insert domain receptor
KIAA0195 KIAA0195
KIF1B kinesin family member 1B
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT7 keratin 7, type II
LEMD3 LEM domain containing 3
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYVE1 lymphatic vessel endothelial hyaluronan receptor 1
MAG myelin associated glycoprotein
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAX MYC associated factor X
MEN1 multiple endocrine neoplasia I
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKI67 marker of proliferation Ki-67
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MT-CYB cytochrome b
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYF6 myogenic factor 6 (herculin)
NDC80 NDC80 kinetochore complex component
NDRG1 N-myc downstream regulated 1
NELFA negative elongation factor complex member A
NODAL nodal growth differentiation factor
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPY neuropeptide Y
NR1I3 nuclear receptor subfamily 1, group I, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRP2 neuropilin 2
NSD2 nuclear receptor binding SET domain protein 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAM peptidylglycine alpha-amidating monooxygenase
PAPLN papilin, proteoglycan-like sulfated glycoprotein
PAX8 paired box 8
PCNA proliferating cell nuclear antigen
PDCD10 programmed cell death 10
PDE5A phosphodiesterase 5A, cGMP-specific
PDPN podoplanin
PECAM1 platelet/endothelial cell adhesion molecule 1
PHIP pleckstrin homology domain interacting protein
PIGF phosphatidylinositol glycan anchor biosynthesis, class F
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PORCN porcupine homolog (Drosophila)
POU3F3 POU class 3 homeobox 3
PPARG peroxisome proliferator-activated receptor gamma
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTK2B protein tyrosine kinase 2 beta
PTPA protein phosphatase 2 phosphatase activator
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPRC protein tyrosine phosphatase, receptor type, C
RET ret proto-oncogene
RIT1 Ras-like without CAAX 1
RNF213 ring finger protein 213
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RPL5 ribosomal protein L5
RYR1 ryanodine receptor 1 (skeletal)
SCLY selenocysteine lyase
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD2 SET domain containing 2
SHCBP1 SHC SH2-domain binding protein 1
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX3 SIX homeobox 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SMAD4 SMAD family member 4
SOX18 SRY (sex determining region Y)-box 18
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SRP54 signal recognition particle 54kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
TAC1 tachykinin, precursor 1
TAL1 T-cell acute lymphocytic leukemia 1
TALDO1 transaldolase 1
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBRG1 transforming growth factor beta regulator 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TDGF1 teratocarcinoma-derived growth factor 1
TEK TEK tyrosine kinase, endothelial
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGIF1 TGFB-induced factor homeobox 1
THBD thrombomodulin
THBS1 thrombospondin 1
THSD1 thrombospondin, type I, domain containing 1
THY1 Thy-1 cell surface antigen
TIMP2 TIMP metallopeptidase inhibitor 2
TMEM127 transmembrane protein 127
TNF tumor necrosis factor
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TP53 tumor protein p53
TPD52 tumor protein D52
TPSD1 tryptase delta 1
TRIM13 tripartite motif containing 13
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPO translocator protein (18kDa)
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VHLL von Hippel-Lindau tumor suppressor-like
VIM vimentin
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YAP1 Yes-associated protein 1
ZIC2 Zic family member 2
ZMYM2 zinc finger, MYM-type 2