dilated brain ventricles Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid (Mammalian Phenotype Ontology, MP_0012676)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012676
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Genes

65 gene mutations causing the dilated brain ventricles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AK8 adenylate kinase 8
ARHGAP5 Rho GTPase activating protein 5
ATAT1 alpha tubulin acetyltransferase 1
ATXN1 ataxin 1
BBS1 Bardet-Biedl syndrome 1
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
DHCR7 7-dehydrocholesterol reductase
DLG5 discs, large homolog 5 (Drosophila)
DNAI1 dynein, axonemal, intermediate chain 1
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
E2F5 E2F transcription factor 5, p130-binding
EMX2 empty spiracles homeobox 2
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXJ1 forkhead box J1
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GDF7 growth differentiation factor 7
HSF1 heat shock transcription factor 1
HSF2 heat shock transcription factor 2
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
JAM3 junctional adhesion molecule 3
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LLGL1 lethal giant larvae homolog 1 (Drosophila)
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MBOAT7 membrane bound O-acyltransferase domain containing 7
MDM4 MDM4, p53 regulator
MSI1 musashi RNA-binding protein 1
MSX1 msh homeobox 1
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYH10 myosin, heavy chain 10, non-muscle
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NEK1 NIMA-related kinase 1
NFIA nuclear factor I/A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NME7 NME/NM23 family member 7
OPHN1 oligophrenin 1
PFDN5 prefoldin subunit 5
PKD1 polycystic kidney disease 1 (autosomal dominant)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPARD peroxisome proliferator-activated receptor delta
PSEN1 presenilin 1
RB1 retinoblastoma 1
RND3 Rho family GTPase 3
RPGRIP1L RPGRIP1-like
SLX4 SLX4 structure-specific endonuclease subunit
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPTAN1 spectrin, alpha, non-erythrocytic 1
TAL2 T-cell acute lymphocytic leukemia 2
TMEM67 transmembrane protein 67
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
ULK4 unc-51 like kinase 4
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423