abnormal blood vessel physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of any of the tubes that convey blood including the arteries, arterioles, capillaries, venules, and veins (Mammalian Phenotype Ontology, MP_0000249)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000249
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Genes

307 gene mutations causing the abnormal blood vessel physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD2 abhydrolase domain containing 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVRL1 activin A receptor type II-like 1
ADAM15 ADAM metallopeptidase domain 15
ADAM17 ADAM metallopeptidase domain 17
ADGRA2 adhesion G protein-coupled receptor A2
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADORA2B adenosine A2b receptor
ADRA1A adrenoceptor alpha 1A
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
AGXT2 alanine--glyoxylate aminotransferase 2
ANGPT2 angiopoietin 2
ANGPTL4 angiopoietin-like 4
ANKRD17 ankyrin repeat domain 17
ANPEP alanyl (membrane) aminopeptidase
ANXA1 annexin A1
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
AQP1 aquaporin 1 (Colton blood group)
AQP4 aquaporin 4
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARMC4 armadillo repeat containing 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASIC2 acid sensing (proton gated) ion channel 2
ASL argininosuccinate lyase
ATP2A3 ATPase, Ca++ transporting, ubiquitous
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
AVPR1A arginine vasopressin receptor 1A
AXL AXL receptor tyrosine kinase
BCAR1 breast cancer anti-estrogen resistance 1
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C1QTNF5 C1q and tumor necrosis factor related protein 5
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD151 CD151 molecule (Raph blood group)
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CDH13 cadherin 13
CDH5 cadherin 5, type 2 (vascular endothelium)
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CHD2 chromodomain helicase DNA binding protein 2
CHRD chordin
CHRM3 cholinergic receptor, muscarinic 3
CHRM5 cholinergic receptor, muscarinic 5
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLDN5 claudin 5
CLIC4 chloride intracellular channel 4
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
CRHR2 corticotropin releasing hormone receptor 2
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSRP1 cysteine and glycine-rich protein 1
CSRP2 cysteine and glycine-rich protein 2
CSRP2BP CSRP2 binding protein
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSS cathepsin S
CTTN cortactin
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCR2 chemokine (C-X-C motif) receptor 2
CYSLTR1 cysteinyl leukotriene receptor 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
DLL4 delta-like 4 (Drosophila)
DSTN destrin (actin depolymerizing factor)
ECE1 endothelin converting enzyme 1
ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator
EDA ectodysplasin A
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGR1 early growth response 1
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ELN elastin
ENG endoglin
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERRFI1 ERBB receptor feedback inhibitor 1
ESAM endothelial cell adhesion molecule
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F2R coagulation factor II (thrombin) receptor
F3 coagulation factor III (thromboplastin, tissue factor)
FAS Fas cell surface death receptor
FBLN5 fibulin 5
FBN1 fibrillin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FGF2 fibroblast growth factor 2 (basic)
FIGN fidgetin
FLT1 fms-related tyrosine kinase 1
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FOXN1 forkhead box N1
GAS6 growth arrest-specific 6
GATA2 GATA binding protein 2
GFAP glial fibrillary acidic protein
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GPR17 G protein-coupled receptor 17
GPSM1 G-protein signaling modulator 1
GPX3 glutathione peroxidase 3
GPX7 glutathione peroxidase 7
GSN gelsolin
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY1B3 guanylate cyclase 1, soluble, beta 3
H2AFX H2A histone family, member X
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPSE heparanase
HRH3 histamine receptor H3
ICAM1 intercellular adhesion molecule 1
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IER3 immediate early response 3
IFI27 interferon, alpha-inducible protein 27
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IL10 interleukin 10
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
INS insulin
IRF1 interferon regulatory factor 1
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK6 potassium channel, two pore domain subfamily K, member 6
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLF15 Kruppel-like factor 15
KLF5 Kruppel-like factor 5 (intestinal)
KLHL20 kelch-like family member 20
KLK3 kallikrein-related peptidase 3
KRT1 keratin 1, type II
LEP leptin
LEPR leptin receptor
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIF leukemia inhibitory factor
LIMK2 LIM domain kinase 2
LIPG lipase, endothelial
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP5 low density lipoprotein receptor-related protein 5
LTC4S leukotriene C4 synthase
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MCPH1 microcephalin 1
MED1 mediator complex subunit 1
MIR143 microRNA 143
MMP11 matrix metallopeptidase 11
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MRVI1 murine retrovirus integration site 1 homolog
MTAP methylthioadenosine phosphorylase
MYH11 myosin, heavy chain 11, smooth muscle
MYH9 myosin, heavy chain 9, non-muscle
MYOF myoferlin
NCF1 neutrophil cytosolic factor 1
NDP Norrie disease (pseudoglioma)
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOSTRIN nitric oxide synthase trafficking
NOTCH1 notch 1
NOV nephroblastoma overexpressed
NOX1 NADPH oxidase 1
NOX4 NADPH oxidase 4
NPR1 natriuretic peptide receptor 1
NPY1R neuropeptide Y receptor Y1
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A1 nuclear receptor subfamily 4, group A, member 1
NRARP NOTCH-regulated ankyrin repeat protein
NRP1 neuropilin 1
NT5E 5'-nucleotidase, ecto (CD73)
OPTC opticin
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6
PAX6 paired box 6
PDC phosducin
PDGFB platelet-derived growth factor beta polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PEX3 peroxisomal biogenesis factor 3
PGF placental growth factor
PGR progesterone receptor
PIP prolactin-induced protein
PLAC8 placenta-specific 8
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLG plasminogen
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLVAP plasmalemma vesicle associated protein
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMT1 protein-O-mannosyltransferase 1
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDX6 peroxiredoxin 6
PRKCB protein kinase C, beta
PRKG1 protein kinase, cGMP-dependent, type I
PRMT2 protein arginine methyltransferase 2
PROS1 protein S (alpha)
PRPH2 peripherin 2 (retinal degeneration, slow)
PSEN1 presenilin 1
PTAFR platelet-activating factor receptor
PTGDR prostaglandin D2 receptor (DP)
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRM protein tyrosine phosphatase, receptor type, M
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAG1 recombination activating gene 1
RAMP1 receptor (G protein-coupled) activity modifying protein 1
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
REN renin
RGS2 regulator of G-protein signaling 2
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RORA RAR-related orphan receptor A
RPL24 ribosomal protein L24
RRAS related RAS viral (r-ras) oncogene homolog
S1PR1 sphingosine-1-phosphate receptor 1
SCARB1 scavenger receptor class B, member 1
SCPEP1 serine carboxypeptidase 1
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SFRP2 secreted frizzled-related protein 2
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SMAD3 SMAD family member 3
SMAD6 SMAD family member 6
SMTN smoothelin
SMTNL1 smoothelin-like 1
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX18 SRY (sex determining region Y)-box 18
SPNS2 spinster homolog 2 (Drosophila)
SPP1 secreted phosphoprotein 1
SSBP2 single-stranded DNA binding protein 2
STMN1 stathmin 1
TACR1 tachykinin receptor 1
TBX1 T-box 1
TBXA2R thromboxane A2 receptor
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TMC8 transmembrane channel-like 8
TNFRSF19 tumor necrosis factor receptor superfamily, member 19
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TNIP1 TNFAIP3 interacting protein 1
TP53 tumor protein p53
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC4 transient receptor potential cation channel, subfamily C, member 4
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUSC2 tumor suppressor candidate 2
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UHMK1 U2AF homology motif (UHM) kinase 1
UTS2R urotensin 2 receptor
VEGFB vascular endothelial growth factor B
VIM vimentin
VLDLR very low density lipoprotein receptor
VWF von Willebrand factor
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein