abnormal cerebellum development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills (Mammalian Phenotype Ontology, MP_0000854)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000854
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Genes

87 gene mutations causing the abnormal cerebellum development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP2 acid phosphatase 2, lysosomal
AHI1 Abelson helper integration site 1
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATOH1 atonal homolog 1 (Drosophila)
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CADPS2 Ca++-dependent secretion activator 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCND2 cyclin D2
CDK5 cyclin-dependent kinase 5
CEND1 cell cycle exit and neuronal differentiation 1
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CTNNA2 catenin (cadherin-associated protein), alpha 2
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DNER delta/notch-like EGF repeat containing
DSCAM Down syndrome cell adhesion molecule
EGFR epidermal growth factor receptor
EN1 engrailed homeobox 1
EN2 engrailed homeobox 2
ERBB3 erb-b2 receptor tyrosine kinase 3
FIGN fidgetin
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXP2 forkhead box P2
FRS2 fibroblast growth factor receptor substrate 2
GAS1 growth arrest-specific 1
GBX2 gastrulation brain homeobox 2
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GPR37L1 G protein-coupled receptor 37 like 1
GRID2 glutamate receptor, ionotropic, delta 2
HTT huntingtin
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
LGI1 leucine-rich, glioma inactivated 1
LMNB2 lamin B2
LMX1A LIM homeobox transcription factor 1, alpha
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
MAP1B microtubule-associated protein 1B
MET MET proto-oncogene, receptor tyrosine kinase
MID1 midline 1
MSX2 msh homeobox 2
MYH10 myosin, heavy chain 10, non-muscle
NEUROD4 neuronal differentiation 4
NEUROG2 neurogenin 2
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NPAS3 neuronal PAS domain protein 3
NR1D1 nuclear receptor subfamily 1, group D, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OTX1 orthodenticle homeobox 1
PAX5 paired box 5
PAX6 paired box 6
PEX2 peroxisomal biogenesis factor 2
PLCB4 phospholipase C, beta 4
PLXNB2 plexin B2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POU1F1 POU class 1 homeobox 1
PTF1A pancreas specific transcription factor, 1a
PURA purine-rich element binding protein A
RELN reelin
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SHH sonic hedgehog
SKOR2 SKI family transcriptional corepressor 2
TBATA thymus, brain and testes associated
THRA thyroid hormone receptor, alpha
TMEM176B transmembrane protein 176B
TP53 tumor protein p53
UNC5C unc-5 homolog C (C. elegans)
VLDLR very low density lipoprotein receptor
WNT1 wingless-type MMTV integration site family, member 1
ZBTB18 zinc finger and BTB domain containing 18
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423