abnormal vascular smooth muscle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels (Mammalian Phenotype Ontology, MP_0005592)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005592
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Genes

72 gene mutations causing the abnormal vascular smooth muscle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADAM19 ADAM metallopeptidase domain 19
ADORA2A adenosine A2a receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
AHR aryl hydrocarbon receptor
ANKRD17 ankyrin repeat domain 17
ARNTL aryl hydrocarbon receptor nuclear translocator-like
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BMP4 bone morphogenetic protein 4
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CALCRL calcitonin receptor-like
CCM2 cerebral cavernous malformation 2
COL3A1 collagen, type III, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DES desmin
DLL4 delta-like 4 (Drosophila)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ELN elastin
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ESR2 estrogen receptor 2 (ER beta)
FN1 fibronectin 1
FOXM1 forkhead box M1
GPR4 G protein-coupled receptor 4
HHEX hematopoietically expressed homeobox
IDUA iduronidase, alpha-L-
ITGA7 integrin, alpha 7
KLF2 Kruppel-like factor 2
LMNA lamin A/C
LOX lysyl oxidase
LPAR4 lysophosphatidic acid receptor 4
LTBP1 latent transforming growth factor beta binding protein 1
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK7 mitogen-activated protein kinase 7
MGP matrix Gla protein
MKL2 MKL/myocardin-like 2
MYOCD myocardin
NOTCH3 notch 3
NPPA natriuretic peptide A
NRP1 neuropilin 1
NTF3 neurotrophin 3
PARVA parvin, alpha
PDC phosducin
PDGFB platelet-derived growth factor beta polypeptide
PGR progesterone receptor
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLXND1 plexin D1
PRKCD protein kinase C, delta
PROS1 protein S (alpha)
PTPRJ protein tyrosine phosphatase, receptor type, J
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1
REN renin
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
S1PR1 sphingosine-1-phosphate receptor 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGPL1 sphingosine-1-phosphate lyase 1
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SMAD5 SMAD family member 5
STK11 serine/threonine kinase 11
TBX1 T-box 1
TGFBR1 transforming growth factor, beta receptor 1
THBS1 thrombospondin 1
TMSB4X thymosin beta 4, X-linked
VAV2 vav 2 guanine nucleotide exchange factor
ZFAND5 zinc finger, AN1-type domain 5