abnormal purkinje cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex (Mammalian Phenotype Ontology, MP_0000878)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000878
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45 gene mutations causing the abnormal purkinje cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ARCN1 archain 1
ARSG arylsulfatase G
ATF2 activating transcription factor 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATXN1 ataxin 1
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS2 Ca++-dependent secretion activator 2
CAMK4 calcium/calmodulin-dependent protein kinase IV
CERS1 ceramide synthase 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CRYBB2 crystallin, beta B2
EBF2 early B-cell factor 2
EGFR epidermal growth factor receptor
ERBB3 erb-b2 receptor tyrosine kinase 3
FMR1 fragile X mental retardation 1
FZD4 frizzled class receptor 4
GRID2 glutamate receptor, ionotropic, delta 2
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
IREB2 iron-responsive element binding protein 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KL klotho
LYST lysosomal trafficking regulator
NAGLU N-acetylglucosaminidase, alpha
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PFDN5 prefoldin subunit 5
PHYH phytanoyl-CoA 2-hydroxylase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PRNP prion protein
PSAP prosaposin
PURA purine-rich element binding protein A
RELN reelin
RORA RAR-related orphan receptor A
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SUMF1 sulfatase modifying factor 1
THRB thyroid hormone receptor, beta
TRIM2 tripartite motif containing 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
VIM vimentin
ZNF423 zinc finger protein 423