abnormal artery morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the blood vessels that carry blood away from the heart (Mammalian Phenotype Ontology, MP_0002191)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002191
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Genes

310 gene mutations causing the abnormal artery morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABRA actin binding Rho activating protein
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACE angiotensin I converting enzyme
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVRL1 activin A receptor type II-like 1
ADAM19 ADAM metallopeptidase domain 19
ADM adrenomedullin
ADORA2A adenosine A2a receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHR aryl hydrocarbon receptor
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANKH ANKH inorganic pyrophosphate transport regulator
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APOE apolipoprotein E
ARMC4 armadillo repeat containing 4
ATF2 activating transcription factor 2
ATMIN ATM interactor
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
C5ORF42 chromosome 5 open reading frame 42
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC39 coiled-coil domain containing 39
CCM2 cerebral cavernous malformation 2
CDH5 cadherin 5, type 2 (vascular endothelium)
CDO1 cysteine dioxygenase type 1
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXADR coxsackie virus and adenovirus receptor
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYBB cytochrome b-245, beta polypeptide
CYR61 cysteine-rich, angiogenic inducer, 61
DDAH1 dimethylarginine dimethylaminohydrolase 1
DES desmin
DLL1 delta-like 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNM2 dynamin 2
DRC1 dynein regulatory complex subunit 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB2 ephrin-B2
EGLN3 egl-9 family hypoxia-inducible factor 3
ELN elastin
EMILIN1 elastin microfibril interfacer 1
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPAS1 endothelial PAS domain protein 1
ETV2 ets variant 2
EYA1 EYA transcriptional coactivator and phosphatase 1
F2R coagulation factor II (thrombin) receptor
FAM20A family with sequence similarity 20, member A
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF19 fibroblast growth factor 19
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
FLT1 fms-related tyrosine kinase 1
FLT4 fms-related tyrosine kinase 4
FN1 fibronectin 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXH1 forkhead box H1
FOXJ1 forkhead box J1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
FUZ fuzzy planar cell polarity protein
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GBX2 gastrulation brain homeobox 2
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
GPC3 glypican 3
GPER1 G protein-coupled estrogen receptor 1
GPR180 G protein-coupled receptor 180
HAND2 heart and neural crest derivatives expressed 2
HBEGF heparin-binding EGF-like growth factor
HDAC7 histone deacetylase 7
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HMOX1 heme oxygenase 1
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXD3 homeobox D3
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL15 interleukin 15
IL1RN interleukin 1 receptor antagonist
INVS inversin
ISL1 ISL LIM homeobox 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KAT7 K(lysine) acetyltransferase 7
KDR kinase insert domain receptor
KIF7 kinesin family member 7
KL klotho
KLF15 Kruppel-like factor 15
KLF2 Kruppel-like factor 2
KLF3 Kruppel-like factor 3 (basic)
KLF5 Kruppel-like factor 5 (intestinal)
KLK3 kallikrein-related peptidase 3
KRIT1 KRIT1, ankyrin repeat containing
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LEFTY1 left-right determination factor 1
LEMD3 LEM domain containing 3
LEP leptin
LMNA lamin A/C
LMO2 LIM domain only 2 (rhombotin-like 1)
LOX lysyl oxidase
LPIN1 lipin 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK7 mitogen-activated protein kinase 7
MED24 mediator complex subunit 24
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
MMP9 matrix metallopeptidase 9
MOSPD3 motile sperm domain containing 3
MPO myeloperoxidase
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYOCD myocardin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NGFR nerve growth factor receptor
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NOX1 NADPH oxidase 1
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRP1 neuropilin 1
NTF3 neurotrophin 3
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OTULIN OTU deubiquitinase with linear linkage specificity
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
PAM peptidylglycine alpha-amidating monooxygenase
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX3 paired box 3
PAX8 paired box 8
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFB platelet-derived growth factor beta polypeptide
PDPN podoplanin
PEPD peptidase D
PHC1 polyhomeotic homolog 1 (Drosophila)
PHOX2B paired-like homeobox 2b
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLA2G15 phospholipase A2, group XV
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLVAP plasmalemma vesicle associated protein
PLXND1 plexin D1
PNPLA6 patatin-like phospholipase domain containing 6
POGLUT1 protein O-glucosyltransferase 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PON1 paraoxonase 1
PON2 paraoxonase 2
PRDM1 PR domain containing 1, with ZNF domain
PRKCD protein kinase C, delta
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGIS prostaglandin I2 (prostacyclin) synthase
PTK2 protein tyrosine kinase 2
PTK7 protein tyrosine kinase 7 (inactive)
PTPRJ protein tyrosine phosphatase, receptor type, J
PXN paxillin
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RARB retinoic acid receptor, beta
RASIP1 Ras interacting protein 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RDH10 retinol dehydrogenase 10 (all-trans)
REN renin
RERE arginine-glutamic acid dipeptide (RE) repeats
RGS2 regulator of G-protein signaling 2
RGS5 regulator of G-protein signaling 5
RIPPLY3 ripply transcriptional repressor 3
RORA RAR-related orphan receptor A
RRAS related RAS viral (r-ras) oncogene homolog
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
S1PR1 sphingosine-1-phosphate receptor 1
SCARB1 scavenger receptor class B, member 1
SCX scleraxis basic helix-loop-helix transcription factor
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SDPR serum deprivation response
SEC24B SEC24 family member B
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD2 SMAD family member 2
SMAD5 SMAD family member 5
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOX4 SRY (sex determining region Y)-box 4
SPP1 secreted phosphoprotein 1
STK11 serine/threonine kinase 11
SUFU suppressor of fused homolog (Drosophila)
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBX6 T-box 6
TDG thymine-DNA glycosylase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TLL1 tolloid-like 1
TLR4 toll-like receptor 4
TMBIM1 transmembrane BAX inhibitor motif containing 1
TMEM100 transmembrane protein 100
TMEM67 transmembrane protein 67
TMSB4X thymosin beta 4, X-linked
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TTN titin
VANGL2 VANGL planar cell polarity protein 2
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VEZF1 vascular endothelial zinc finger 1
VIP vasoactive intestinal peptide
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3
ZMIZ1 zinc finger, MIZ-type containing 1