abnormal vascular development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant process of vascular formation (Mammalian Phenotype Ontology, MP_0000259)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000259
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Genes

393 gene mutations causing the abnormal vascular development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A4GNT alpha-1,4-N-acetylglucosaminyltransferase
ABI1 abl-interactor 1
ABRA actin binding Rho activating protein
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADGRA2 adhesion G protein-coupled receptor A2
ADM adrenomedullin
AGER advanced glycosylation end product-specific receptor
AGTR2 angiotensin II receptor, type 2
AHR aryl hydrocarbon receptor
AIP aryl hydrocarbon receptor interacting protein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AMOT angiomotin
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
ANGPTL6 angiopoietin-like 6
ANKRD17 ankyrin repeat domain 17
ANXA1 annexin A1
ANXA2 annexin A2
APH1A APH1A gamma secretase subunit
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARID1A AT rich interactive domain 1A (SWI-like)
ARID3B AT rich interactive domain 3B (BRIGHT-like)
ARNT aryl hydrocarbon receptor nuclear translocator
ATE1 arginyltransferase 1
ATF2 activating transcription factor 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BIRC6 baculoviral IAP repeat containing 6
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAPN2 calpain 2, (m/II) large subunit
CAPNS1 calpain, small subunit 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCDC88A coiled-coil domain containing 88A
CCL13 chemokine (C-C motif) ligand 13
CCM2 cerebral cavernous malformation 2
CCM2L cerebral cavernous malformation 2-like
CCNF cyclin F
CD151 CD151 molecule (Raph blood group)
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CHD7 chromodomain helicase DNA binding protein 7
CHM choroideremia (Rab escort protein 1)
CHRD chordin
CLIC4 chloride intracellular channel 4
CRB2 crumbs family member 2
CREBBP CREB binding protein
CRHR2 corticotropin releasing hormone receptor 2
CSK c-src tyrosine kinase
CTBP2 C-terminal binding protein 2
CTGF connective tissue growth factor
CTSS cathepsin S
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL7 cullin 7
CXADR coxsackie virus and adenovirus receptor
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYR61 cysteine-rich, angiogenic inducer, 61
DCBLD2 discoidin, CUB and LCCL domain containing 2
DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17
DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5
DICER1 dicer 1, ribonuclease type III
DISP1 dispatched homolog 1 (Drosophila)
DLC1 DLC1 Rho GTPase activating protein
DLL4 delta-like 4 (Drosophila)
DOCK1 dedicator of cytokinesis 1
DOT1L DOT1-like histone H3K79 methyltransferase
DSTN destrin (actin depolymerizing factor)
ECE1 endothelin converting enzyme 1
ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNB2 ephrin-B2
EGFL7 EGF-like-domain, multiple 7
ELN elastin
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHA2 EPH receptor A2
EPHB4 EPH receptor B4
EPO erythropoietin
EPOR erythropoietin receptor
ERF Ets2 repressor factor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESAM endothelial cell adhesion molecule
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
ETV2 ets variant 2
ETV6 ets variant 6
F11R F11 receptor
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F3 coagulation factor III (thromboplastin, tissue factor)
FBLN5 fibulin 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FES FES proto-oncogene, tyrosine kinase
FGF2 fibroblast growth factor 2 (basic)
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFRL1 fibroblast growth factor receptor-like 1
FHOD3 formin homology 2 domain containing 3
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
FLNB filamin B, beta
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOSL1 FOS-like antigen 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXH1 forkhead box H1
FOXO1 forkhead box O1
FURIN furin (paired basic amino acid cleaving enzyme)
FZD4 frizzled class receptor 4
FZD5 frizzled class receptor 5
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATAD2A GATA zinc finger domain containing 2A
GBX2 gastrulation brain homeobox 2
GIPC1 GIPC PDZ domain containing family, member 1
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GPC3 glypican 3
GPR4 G protein-coupled receptor 4
GTF2IRD1 GTF2I repeat domain containing 1
H2AFX H2A histone family, member X
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HDAC7 histone deacetylase 7
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HOXA13 homeobox A13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPSE heparanase
HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPG2 heparan sulfate proteoglycan 2
HUS1 HUS1 checkpoint homolog (S. pombe)
ICAM1 intercellular adhesion molecule 1
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNGR1 interferon gamma receptor 1
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL11RA interleukin 11 receptor, alpha
IL12RB2 interleukin 12 receptor, beta 2
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
ILK integrin-linked kinase
ISL1 ISL LIM homeobox 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITGB8 integrin, beta 8
JAG1 jagged 1
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KAT7 K(lysine) acetyltransferase 7
KDM8 lysine (K)-specific demethylase 8
KDR kinase insert domain receptor
KLF15 Kruppel-like factor 15
KLF5 Kruppel-like factor 5 (intestinal)
KLF6 Kruppel-like factor 6
KRIT1 KRIT1, ankyrin repeat containing
KRT1 keratin 1, type II
LDB1 LIM domain binding 1
LEF1 lymphoid enhancer-binding factor 1
LEFTY2 left-right determination factor 2
LEMD3 LEM domain containing 3
LEPR leptin receptor
LMO2 LIM domain only 2 (rhombotin-like 1)
LTBP1 latent transforming growth factor beta binding protein 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MED23 mediator complex subunit 23
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MEIS1 Meis homeobox 1
MFGE8 milk fat globule-EGF factor 8 protein
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPI mannose phosphate isomerase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH11 myosin, heavy chain 11, smooth muscle
MYH9 myosin, heavy chain 9, non-muscle
MYL7 myosin, light chain 7, regulatory
MYO18B myosin XVIIIB
MYOCD myocardin
NCF1 neutrophil cytosolic factor 1
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NGFR nerve growth factor receptor
NKX2-5 NK2 homeobox 5
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOSTRIN nitric oxide synthase trafficking
NOTCH1 notch 1
NOTCH3 notch 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRARP NOTCH-regulated ankyrin repeat protein
NRP1 neuropilin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTF3 neurotrophin 3
NUMB numb homolog (Drosophila)
OSR1 odd-skipped related transciption factor 1
OTULIN OTU deubiquitinase with linear linkage specificity
OVOL2 ovo-like zinc finger 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PALB2 partner and localizer of BRCA2
PAM peptidylglycine alpha-amidating monooxygenase
PARVA parvin, alpha
PAX3 paired box 3
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PBX1 pre-B-cell leukemia homeobox 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PDCD10 programmed cell death 10
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PFKM phosphofructokinase, muscle
PGF placental growth factor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX2 paired-like homeodomain 2
PKNOX1 PBX/knotted 1 homeobox 1
PLAT plasminogen activator, tissue
PLAUR plasminogen activator, urokinase receptor
PLCG1 phospholipase C, gamma 1
PLD1 phospholipase D1, phosphatidylcholine-specific
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLG plasminogen
PLXND1 plexin D1
PNPLA6 patatin-like phospholipase domain containing 6
POFUT1 protein O-fucosyltransferase 1
POFUT2 protein O-fucosyltransferase 2
POGLUT1 protein O-glucosyltransferase 1
PPAP2B phosphatidic acid phosphatase type 2B
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha
PRDM1 PR domain containing 1, with ZNF domain
PRDM6 PR domain containing 6
PROS1 protein S (alpha)
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTK2 protein tyrosine kinase 2
PTK2B protein tyrosine kinase 2 beta
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
PXN paxillin
QKI QKI, KH domain containing, RNA binding
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD23B RAD23 homolog B (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RAP1A RAP1A, member of RAS oncogene family
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASA3 RAS p21 protein activator 3
RASIP1 Ras interacting protein 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RHOB ras homolog family member B
RIPPLY3 ripply transcriptional repressor 3
RNF7 ring finger protein 7
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RORA RAR-related orphan receptor A
RPL38 ribosomal protein L38
RRAS related RAS viral (r-ras) oncogene homolog
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
S1PR1 sphingosine-1-phosphate receptor 1
S1PR2 sphingosine-1-phosphate receptor 2
SCX scleraxis basic helix-loop-helix transcription factor
SDC4 syndecan 4
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SENP1 SUMO1/sentrin specific peptidase 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD2 SET domain containing 2
SHARPIN SHANK-associated RH domain interactor
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD2 SMAD family member 2
SMAD5 SMAD family member 5
SMAD7 SMAD family member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMO smoothened, frizzled class receptor
SOX4 SRY (sex determining region Y)-box 4
SOX7 SRY (sex determining region Y)-box 7
SPP1 secreted phosphoprotein 1
SPTBN1 spectrin, beta, non-erythrocytic 1
STARD13 StAR-related lipid transfer (START) domain containing 13
STK11 serine/threonine kinase 11
STRAP serine/threonine kinase receptor associated protein
T T, brachyury homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TBX18 T-box 18
TBX2 T-box 2
TBX20 T-box 20
TBX3 T-box 3
TBX4 T-box 4
TBX6 T-box 6
TDG thymine-DNA glycosylase
TDGF1 teratocarcinoma-derived growth factor 1
TEK TEK tyrosine kinase, endothelial
TERC telomerase RNA component
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
THBS1 thrombospondin 1
THBS2 thrombospondin 2
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TMSB4X thymosin beta 4, X-linked
TP53 tumor protein p53
TRA2B transformer 2 beta homolog (Drosophila)
TSC2 tuberous sclerosis 2
TTN titin
UBP1 upstream binding protein 1 (LBP-1a)
UBR4 ubiquitin protein ligase E3 component n-recognin 4
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UNC5B unc-5 homolog B (C. elegans)
VASH1 vasohibin 1
VASH2 vasohibin 2
VAV3 vav 3 guanine nucleotide exchange factor
VEGFA vascular endothelial growth factor A
VEZF1 vascular endothelial zinc finger 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
WASF2 WAS protein family, member 2
WDR83 WD repeat domain 83
WNK1 WNK lysine deficient protein kinase 1
YAP1 Yes-associated protein 1
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM1 zinc finger protein, FOG family member 1
ZMIZ1 zinc finger, MIZ-type containing 1
ZNF148 zinc finger protein 148