abnormal cerebellar foliation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly of the pattern of the ten cerebellar lobules; in mammals, the vermis portion of the cerebellum has a foliation pattern along the AP axis that is distinct from the lateral cerebellar hemispheres and the intermediate zone that separates the vermis from the lateral hemispheres; in addition, each of the ten basic lobules can be subdivided into sublobules but strain and species differences are reported (Mammalian Phenotype Ontology, MP_0000857)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000857
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Genes

55 gene mutations causing the abnormal cerebellar foliation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AHI1 Abelson helper integration site 1
ATOH1 atonal homolog 1 (Drosophila)
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
CCND2 cyclin D2
CDK5 cyclin-dependent kinase 5
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CTNNA2 catenin (cadherin-associated protein), alpha 2
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
EN1 engrailed homeobox 1
EN2 engrailed homeobox 2
FIGN fidgetin
FKRP fukutin related protein
FOXP2 forkhead box P2
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GRID2 glutamate receptor, ionotropic, delta 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 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
MYH10 myosin, heavy chain 10, non-muscle
NEUROD4 neuronal differentiation 4
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NPAS3 neuronal PAS domain protein 3
OTX1 orthodenticle homeobox 1
PAX5 paired box 5
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
RELN reelin
RORA RAR-related orphan receptor A
SKOR2 SKI family transcriptional corepressor 2
TMEM176B transmembrane protein 176B
TP53 tumor protein p53
UNC5C unc-5 homolog C (C. elegans)
VLDLR very low density lipoprotein receptor
ZBTB18 zinc finger and BTB domain containing 18
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423