abnormal brain ventricle size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013229
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88 gene mutations causing the abnormal brain ventricle size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRA2 adhesion G protein-coupled receptor A2
AGA aspartylglucosaminidase
AK7 adenylate kinase 7
ANK2 ankyrin 2, neuronal
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARX aristaless related homeobox
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATF2 activating transcription factor 2
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATXN1L ataxin 1-like
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BASP1 brain abundant, membrane attached signal protein 1
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
CD247 CD247 molecule
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDON cell adhesion associated, oncogene regulated
CFL1 cofilin 1 (non-muscle)
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CLCN3 chloride channel, voltage-sensitive 3
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAH5 dynein, axonemal, heavy chain 5
DSCAM Down syndrome cell adhesion molecule
EFHC1 EF-hand domain (C-terminal) containing 1
EIF4H eukaryotic translation initiation factor 4H
FES FES proto-oncogene, tyrosine kinase
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FZD3 frizzled class receptor 3
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSF2 heat shock transcription factor 2
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
IFT172 intraflagellar transport 172
ITGB8 integrin, beta 8
KIDINS220 kinase D-interacting substrate, 220kDa
KIF2A kinesin heavy chain member 2A
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LUZP1 leucine zipper protein 1
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPAS3 neuronal PAS domain protein 3
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRD1 nardilysin (N-arginine dibasic convertase)
OTC ornithine carbamoyltransferase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PDE11A phosphodiesterase 11A
PHGDH phosphoglycerate dehydrogenase
PLXNB2 plexin B2
PRNP prion protein
PROS1 protein S (alpha)
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RB1 retinoblastoma 1
RND3 Rho family GTPase 3
RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5
RPS7 ribosomal protein S7
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SOX2 SRY (sex determining region Y)-box 2
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TSKU tsukushi, small leucine rich proteoglycan
TUBB2B tubulin, beta 2B class IIb
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
ZNF423 zinc finger protein 423