abnormal lateral ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle (Mammalian Phenotype Ontology, MP_0000823)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000823
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Genes

106 gene mutations causing the abnormal lateral ventricle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRA2 adhesion G protein-coupled receptor A2
AK7 adenylate kinase 7
AK8 adenylate kinase 8
ANK2 ankyrin 2, neuronal
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARHGAP5 Rho GTPase activating protein 5
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATAT1 alpha tubulin acetyltransferase 1
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATXN1L ataxin 1-like
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BRD7 bromodomain containing 7
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CASP9 caspase 9, apoptosis-related cysteine peptidase
CD247 CD247 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDON cell adhesion associated, oncogene regulated
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CLCN3 chloride channel, voltage-sensitive 3
COL18A1 collagen, type XVIII, alpha 1
DHCR7 7-dehydrocholesterol reductase
DLG5 discs, large homolog 5 (Drosophila)
DNAAF2 dynein, axonemal, assembly factor 2
DNAH5 dynein, axonemal, heavy chain 5
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DSCAM Down syndrome cell adhesion molecule
E2F5 E2F transcription factor 5, p130-binding
EIF4H eukaryotic translation initiation factor 4H
EMX2 empty spiracles homeobox 2
FES FES proto-oncogene, tyrosine kinase
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXJ1 forkhead box J1
FZD3 frizzled class receptor 3
GDF7 growth differentiation factor 7
GLI3 GLI family zinc finger 3
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSF1 heat shock transcription factor 1
HSF2 heat shock transcription factor 2
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
JAM3 junctional adhesion molecule 3
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LRP2 low density lipoprotein receptor-related protein 2
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MBOAT7 membrane bound O-acyltransferase domain containing 7
MDM4 MDM4, p53 regulator
MKKS McKusick-Kaufman syndrome
MSI1 musashi RNA-binding protein 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
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
NPAS3 neuronal PAS domain protein 3
NRD1 nardilysin (N-arginine dibasic convertase)
OPHN1 oligophrenin 1
PAX3 paired box 3
PDE11A phosphodiesterase 11A
PHGDH phosphoglycerate dehydrogenase
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
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RND3 Rho family GTPase 3
SCRIB scribbled planar cell polarity protein
SDCCAG8 serologically defined colon cancer antigen 8
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLX4 SLX4 structure-specific endonuclease subunit
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SOX2 SRY (sex determining region Y)-box 2
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPTAN1 spectrin, alpha, non-erythrocytic 1
TAL2 T-cell acute lymphocytic leukemia 2
TDO2 tryptophan 2,3-dioxygenase
TP73 tumor protein p73
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TSKU tsukushi, small leucine rich proteoglycan
UCHL5 ubiquitin carboxyl-terminal hydrolase L5
ULK4 unc-51 like kinase 4
USP18 ubiquitin specific peptidase 18
VAC14 Vac14 homolog (S. cerevisiae)
VANGL2 VANGL planar cell polarity protein 2
WASF1 WAS protein family, member 1
ZIC2 Zic family member 2
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423