abnormal vascular endothelial cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cells that line the vasculature (Mammalian Phenotype Ontology, MP_0006055)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006055
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Genes

50 gene mutations causing the abnormal vascular endothelial cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
ADM adrenomedullin
ANGPT1 angiopoietin 1
ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26
BCL2 B-cell CLL/lymphoma 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCM2 cerebral cavernous malformation 2
CD40LG CD40 ligand
CD44 CD44 molecule (Indian blood group)
CLIC4 chloride intracellular channel 4
COL15A1 collagen, type XV, alpha 1
CREBBP CREB binding protein
FLT1 fms-related tyrosine kinase 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
HDAC7 histone deacetylase 7
ISL1 ISL LIM homeobox 1
ITGB8 integrin, beta 8
KLF2 Kruppel-like factor 2
MAPK7 mitogen-activated protein kinase 7
MDK midkine (neurite growth-promoting factor 2)
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NGF nerve growth factor (beta polypeptide)
NOS3 nitric oxide synthase 3 (endothelial cell)
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLVAP plasmalemma vesicle associated protein
PPARA peroxisome proliferator-activated receptor alpha
PSAP prosaposin
PSEN1 presenilin 1
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRJ protein tyrosine phosphatase, receptor type, J
PTRF polymerase I and transcript release factor
QKI QKI, KH domain containing, RNA binding
RARB retinoic acid receptor, beta
RASIP1 Ras interacting protein 1
RECK reversion-inducing-cysteine-rich protein with kazal motifs
S1PR1 sphingosine-1-phosphate receptor 1
SDPR serum deprivation response
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SMAD5 SMAD family member 5
SOX18 SRY (sex determining region Y)-box 18
TEK TEK tyrosine kinase, endothelial
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
VEGFA vascular endothelial growth factor A
VEZF1 vascular endothelial zinc finger 1