abnormal brain vasculature morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the blood vessel network of the brain (Mammalian Phenotype Ontology, MP_0004950)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004950
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35 gene mutations causing the abnormal brain vasculature morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADGRA2 adhesion G protein-coupled receptor A2
AMOT angiomotin
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D1A coiled-coil and C2 domain containing 1A
CCM2 cerebral cavernous malformation 2
CLEC1B C-type lectin domain family 1, member B
EN1 engrailed homeobox 1
ENG endoglin
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FLNB filamin B, beta
FZD4 frizzled class receptor 4
ITGB8 integrin, beta 8
KIDINS220 kinase D-interacting substrate, 220kDa
LIF leukemia inhibitory factor
LLGL1 lethal giant larvae homolog 1 (Drosophila)
MKL2 MKL/myocardin-like 2
MYH9 myosin, heavy chain 9, non-muscle
NDP Norrie disease (pseudoglioma)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NRP1 neuropilin 1
OTULIN OTU deubiquitinase with linear linkage specificity
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PROS1 protein S (alpha)
PSEN1 presenilin 1
PTEN phosphatase and tensin homolog
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1
SUFU suppressor of fused homolog (Drosophila)
SYK spleen tyrosine kinase
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
VEGFA vascular endothelial growth factor A
WNK1 WNK lysine deficient protein kinase 1