small cerebellum Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of cerebellum (Mammalian Phenotype Ontology, MP_0000852)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000852
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Genes

79 gene mutations causing the small cerebellum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ASTN1 astrotactin 1
ATOH1 atonal homolog 1 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CCND2 cyclin D2
CERS1 ceramide synthase 1
CIT citron rho-interacting serine/threonine kinase
CNTN1 contactin 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CSTB cystatin B (stefin B)
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DISC1 disrupted in schizophrenia 1
DOCK3 dedicator of cytokinesis 3
EBF2 early B-cell factor 2
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
EIF4H eukaryotic translation initiation factor 4H
EN2 engrailed homeobox 2
ERBB3 erb-b2 receptor tyrosine kinase 3
FOXP2 forkhead box P2
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
GNPAT glyceronephosphate O-acyltransferase
GRID2 glutamate receptor, ionotropic, delta 2
HYDIN HYDIN, axonemal central pair apparatus protein
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2
KIF14 kinesin family member 14
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
MET MET proto-oncogene, receptor tyrosine kinase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH10 myosin, heavy chain 10, non-muscle
NEUROD2 neuronal differentiation 2
NEUROD4 neuronal differentiation 4
NPC1 Niemann-Pick disease, type C1
NRCAM neuronal cell adhesion molecule
PEX2 peroxisomal biogenesis factor 2
PFDN5 prefoldin subunit 5
PLCB4 phospholipase C, beta 4
PLXNB2 plexin B2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PSAP prosaposin
PTF1A pancreas specific transcription factor, 1a
PURA purine-rich element binding protein A
RELN reelin
RORA RAR-related orphan receptor A
RPGRIP1L RPGRIP1-like
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SHH sonic hedgehog
SKOR2 SKI family transcriptional corepressor 2
SOX11 SRY (sex determining region Y)-box 11
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
TDP1 tyrosyl-DNA phosphodiesterase 1
THRB thyroid hormone receptor, beta
TMEM176B transmembrane protein 176B
TMEM67 transmembrane protein 67
TP53 tumor protein p53
TUBB2B tubulin, beta 2B class IIb
UBE3A ubiquitin protein ligase E3A
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VLDLR very low density lipoprotein receptor
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423