abnormal systemic artery morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs (Mammalian Phenotype Ontology, MP_0011655)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011655
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Genes

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

Symbol Name
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
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
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
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
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
CCDC39 coiled-coil domain containing 39
CCM2 cerebral cavernous malformation 2
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
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCR4 chemokine (C-X-C motif) receptor 4
CYBB cytochrome b-245, beta polypeptide
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
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGLN3 egl-9 family hypoxia-inducible factor 3
ELN elastin
EMILIN1 elastin microfibril interfacer 1
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
F2R coagulation factor II (thrombin) receptor
FAM20A family with sequence similarity 20, member A
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF19 fibroblast growth factor 19
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
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
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
HBEGF heparin-binding EGF-like growth factor
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXD3 homeobox D3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IL15 interleukin 15
INVS inversin
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
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
LEFTY1 left-right determination factor 1
LMNA lamin A/C
LOX lysyl oxidase
LPIN1 lipin 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
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
MUS81 MUS81 structure-specific endonuclease subunit
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NODAL nodal growth differentiation factor
NOS2 nitric oxide synthase 2, inducible
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
OTULIN OTU deubiquitinase with linear linkage specificity
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
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
PEPD peptidase D
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLXND1 plexin D1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRDM1 PR domain containing 1, with ZNF domain
PRRX1 paired related homeobox 1
PTGIS prostaglandin I2 (prostacyclin) synthase
PTK2 protein tyrosine kinase 2
RAMP2 receptor (G protein-coupled) activity modifying protein 2
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
RXRA retinoid X receptor, alpha
S1PR1 sphingosine-1-phosphate receptor 1
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC24B SEC24 family member B
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIX1 SIX homeobox 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD6 SMAD family member 6
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
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
TLL1 tolloid-like 1
TMBIM1 transmembrane BAX inhibitor motif containing 1
TMEM100 transmembrane protein 100
TMEM67 transmembrane protein 67
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
WT1 Wilms tumor 1
ZIC3 Zic family member 3