abnormal brain ventricle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord (Mammalian Phenotype Ontology, MP_0000822)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000822
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Genes

188 gene mutations causing the abnormal brain ventricle morphology 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
AK8 adenylate kinase 8
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANK2 ankyrin 2, neuronal
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARHGAP35 Rho GTPase activating protein 35
ARHGAP5 Rho GTPase activating protein 5
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARX aristaless related homeobox
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATAT1 alpha tubulin acetyltransferase 1
ATF2 activating transcription factor 2
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATXN1 ataxin 1
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
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCR6 chemokine (C-C motif) receptor 6
CD247 CD247 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDON cell adhesion associated, oncogene regulated
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CLCN3 chloride channel, voltage-sensitive 3
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
CP ceruloplasmin (ferroxidase)
DHCR7 7-dehydrocholesterol reductase
DLG5 discs, large homolog 5 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DNAAF2 dynein, axonemal, assembly factor 2
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DSCAM Down syndrome cell adhesion molecule
E2F5 E2F transcription factor 5, p130-binding
EFHC1 EF-hand domain (C-terminal) containing 1
EIF4H eukaryotic translation initiation factor 4H
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
ERBB3 erb-b2 receptor tyrosine kinase 3
FES FES proto-oncogene, tyrosine kinase
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXJ1 forkhead box J1
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GBX2 gastrulation brain homeobox 2
GDF7 growth differentiation factor 7
GLI3 GLI family zinc finger 3
GSX2 GS homeobox 2
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
IFT172 intraflagellar transport 172
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB8 integrin, beta 8
JAM3 junctional adhesion molecule 3
KDM2B lysine (K)-specific demethylase 2B
KIDINS220 kinase D-interacting substrate, 220kDa
KIF19 kinesin family member 19
KIF2A kinesin heavy chain member 2A
L1CAM L1 cell adhesion molecule
LATS2 large tumor suppressor kinase 2
LBR lamin B receptor
LHX5 LIM homeobox 5
LIPA lipase A, lysosomal acid, cholesterol esterase
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
LUZP1 leucine zipper protein 1
MANBA mannosidase, beta A, lysosomal
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MDM4 MDM4, p53 regulator
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
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
NEU1 sialidase 1 (lysosomal sialidase)
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NME7 NME/NM23 family member 7
NPAS3 neuronal PAS domain protein 3
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRD1 nardilysin (N-arginine dibasic convertase)
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
OTP orthopedia homeobox
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK1IP1 PAK1 interacting protein 1
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX2 paired box 2
PAX3 paired box 3
PDE11A phosphodiesterase 11A
PFDN5 prefoldin subunit 5
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXNB2 plexin B2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPARD peroxisome proliferator-activated receptor delta
PRDM16 PR domain containing 16
PRNP prion protein
PROS1 protein S (alpha)
PSAP prosaposin
PSEN1 presenilin 1
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RB1 retinoblastoma 1
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RND3 Rho family GTPase 3
RPGRIP1L RPGRIP1-like
RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5
RPS7 ribosomal protein S7
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCRIB scribbled planar cell polarity protein
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
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC29A4 solute carrier family 29 (equilibrative nucleoside transporter), member 4
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLX4 SLX4 structure-specific endonuclease subunit
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
TAL2 T-cell acute lymphocytic leukemia 2
TDO2 tryptophan 2,3-dioxygenase
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TGIF1 TGFB-induced factor homeobox 1
TMEM67 transmembrane protein 67
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TSKU tsukushi, small leucine rich proteoglycan
TUBB2B tubulin, beta 2B class IIb
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
VCL vinculin
WASF1 WAS protein family, member 1
WASF2 WAS protein family, member 2
ZIC2 Zic family member 2
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423