abnormal purkinje cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells (Mammalian Phenotype Ontology, MP_0000877)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000877
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Genes

134 gene mutations causing the abnormal purkinje cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ACP2 acid phosphatase 2, lysosomal
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGTPBP1 ATP/GTP binding protein 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK1 ankyrin 1, erythrocytic
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP4B1 adaptor-related protein complex 4, beta 1 subunit
APC2 adenomatosis polyposis coli 2
ARCN1 archain 1
ARSA arylsulfatase A
ARSG arylsulfatase G
ATF2 activating transcription factor 2
ATM ATM serine/threonine kinase
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN7 ataxin 7
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BCL2L2 BCL2-like 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS2 Ca++-dependent secretion activator 2
CAMK4 calcium/calmodulin-dependent protein kinase IV
CCND2 cyclin D2
CCR10 chemokine (C-C motif) receptor 10
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CEND1 cell cycle exit and neuronal differentiation 1
CERS1 ceramide synthase 1
CHP1 calcineurin-like EF-hand protein 1
CLCN7 chloride channel, voltage-sensitive 7
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CP ceruloplasmin (ferroxidase)
CRYBB2 crystallin, beta B2
CTNNA2 catenin (cadherin-associated protein), alpha 2
CXCR4 chemokine (C-X-C motif) receptor 4
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAB2IP DAB2 interacting protein
DNM1 dynamin 1
DPYSL5 dihydropyrimidinase-like 5
EBF2 early B-cell factor 2
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGFR epidermal growth factor receptor
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB3 erb-b2 receptor tyrosine kinase 3
FA2H fatty acid 2-hydroxylase
FGF17 fibroblast growth factor 17
FMR1 fragile X mental retardation 1
FOXP2 forkhead box P2
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLRB glycine receptor, beta
GM2A GM2 ganglioside activator
GNPAT glyceronephosphate O-acyltransferase
GPR37L1 G protein-coupled receptor 37 like 1
GRID2 glutamate receptor, ionotropic, delta 2
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HEXB hexosaminidase B (beta polypeptide)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDUA iduronidase, alpha-L-
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
IREB2 iron-responsive element binding protein 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KIF14 kinesin family member 14
KL klotho
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LYST lysosomal trafficking regulator
MAP1B microtubule-associated protein 1B
MAP2 microtubule-associated protein 2
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MID1 midline 1
MYH10 myosin, heavy chain 10, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
NAGLU N-acetylglucosaminidase, alpha
NCOA1 nuclear receptor coactivator 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX6 paired box 6
PEX2 peroxisomal biogenesis factor 2
PFDN5 prefoldin subunit 5
PHYH phytanoyl-CoA 2-hydroxylase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PITPNA phosphatidylinositol transfer protein, alpha
PLXNB2 plexin B2
POMK protein-O-mannose kinase
PPT1 palmitoyl-protein thioesterase 1
PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
PRNP prion protein
PSAP prosaposin
PURA purine-rich element binding protein A
PVALB parvalbumin
QKI QKI, KH domain containing, RNA binding
RB1 retinoblastoma 1
RELN reelin
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SGCE sarcoglycan, epsilon
SIL1 SIL1 nucleotide exchange factor
SKOR2 SKI family transcriptional corepressor 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPARCL1 SPARC-like 1 (hevin)
SPTBN2 spectrin, beta, non-erythrocytic 2
STK38L serine/threonine kinase 38 like
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUMF1 sulfatase modifying factor 1
THRB thyroid hormone receptor, beta
TOR1A torsin family 1, member A (torsin A)
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UBE4B ubiquitination factor E4B
UGT8 UDP glycosyltransferase 8
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VIM vimentin
ZNF423 zinc finger protein 423