abnormal smooth muscle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. (Mammalian Phenotype Ontology, MP_0000767)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000767
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Genes

97 gene mutations causing the abnormal 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
ANO1 anoctamin 1, calcium activated chloride channel
ARID5B AT rich interactive domain 5B (MRF1-like)
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
CALD1 caldesmon 1
CCM2 cerebral cavernous malformation 2
COL19A1 collagen, type XIX, alpha 1
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
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
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)
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FN1 fibronectin 1
FOXM1 forkhead box M1
GLI2 GLI family zinc finger 2
GPR4 G protein-coupled receptor 4
HHEX hematopoietically expressed homeobox
HOXC4 homeobox C4
HOXD12 homeobox D12
HOXD13 homeobox D13
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
IDUA iduronidase, alpha-L-
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IHH indian hedgehog
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGA7 integrin, alpha 7
KL klotho
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
NCF1 neutrophil cytosolic factor 1
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH3 notch 3
NPPA natriuretic peptide A
NPR2 natriuretic peptide receptor 2
NRP1 neuropilin 1
NTF3 neurotrophin 3
OCLN occludin
PARVA parvin, alpha
PDC phosducin
PDGFB platelet-derived growth factor beta polypeptide
PDX1 pancreatic and duodenal homeobox 1
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
PRKG1 protein kinase, cGMP-dependent, type I
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
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM204 transmembrane protein 204
TMSB4X thymosin beta 4, X-linked
TP63 tumor protein p63
VAV2 vav 2 guanine nucleotide exchange factor
ZFAND5 zinc finger, AN1-type domain 5