Congenital Arteriovenous Malformation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0003857
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Genes

154 genes associated with the disease Congenital Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ACE angiotensin I converting enzyme
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALCAM activated leukocyte cell adhesion molecule
ALX3 ALX homeobox 3
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
ANPEP alanyl (membrane) aminopeptidase
ANXA5 annexin A5
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6
BDNF brain-derived neurotrophic factor
BLNK B-cell linker
BMP10 bone morphogenetic protein 10
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CD34 CD34 molecule
CD6 CD6 molecule
CDH5 cadherin 5, type 2 (vascular endothelium)
CDKN2A cyclin-dependent kinase inhibitor 2A
CLN3 ceroid-lipofuscinosis, neuronal 3
COL18A1 collagen, type XVIII, alpha 1
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRYAB crystallin, alpha B
DLAT dihydrolipoamide S-acetyltransferase
DLL4 delta-like 4 (Drosophila)
DOCK6 dedicator of cytokinesis 6
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNA1 ephrin-A1
EFNB2 ephrin-B2
ELN elastin
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHB2 EPH receptor B2
EPHB4 EPH receptor B4
ERCC4 excision repair cross-complementation group 4
ESAM endothelial cell adhesion molecule
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FGF2 fibroblast growth factor 2 (basic)
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FOXC2 forkhead box C2
GDF2 growth differentiation factor 2
GJA5 gap junction protein, alpha 5, 40kDa
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GUSB glucuronidase, beta
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HRAS Harvey rat sarcoma viral oncogene homolog
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IL1B interleukin 1, beta
IL6 interleukin 6
ITGB8 integrin, beta 8
KDR kinase insert domain receptor
KLF2 Kruppel-like factor 2
KRAS Kirsten rat sarcoma viral oncogene homolog
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP2K1 mitogen-activated protein kinase kinase 1
MAPK1 mitogen-activated protein kinase 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MGP matrix Gla protein
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MSH3 mutS homolog 3
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MVP major vault protein
MYB v-myb avian myeloblastosis viral oncogene homolog
NES nestin
NOS1 nitric oxide synthase 1 (neuronal)
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NOTCH4 notch 4
PAGE1 P antigen family, member 1 (prostate associated)
PAGE4 P antigen family, member 4 (prostate associated)
PALB2 partner and localizer of BRCA2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDGFD platelet derived growth factor D
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
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
PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PTEN phosphatase and tensin homolog
PTPN14 protein tyrosine phosphatase, non-receptor type 14
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP8 retinoblastoma binding protein 8
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFWD3 ring finger and WD repeat domain 3
S100B S100 calcium binding protein B
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLPI secretory leukocyte peptidase inhibitor
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMG8 SMG8 nonsense mediated mRNA decay factor
SMS spermine synthase
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOX17 SRY (sex determining region Y)-box 17
SOX2 SRY (sex determining region Y)-box 2
SPP1 secreted phosphoprotein 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYNGAP1 synaptic Ras GTPase activating protein 1
TEK TEK tyrosine kinase, endothelial
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
THBS1 thrombospondin 1
TLR4 toll-like receptor 4
TMEM100 transmembrane protein 100
TNF tumor necrosis factor
UBE2T ubiquitin-conjugating enzyme E2T
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
VWF von Willebrand factor
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2