abnormal cerebellar purkinje cell layer Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells (Mammalian Phenotype Ontology, MP_0000875)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000875
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Genes

147 gene mutations causing the abnormal cerebellar purkinje cell layer 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
AKAP12 A kinase (PRKA) anchor protein 12
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
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATF2 activating transcription factor 2
ATM ATM serine/threonine kinase
ATOH1 atonal homolog 1 (Drosophila)
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
CIT citron rho-interacting serine/threonine kinase
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
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
DNER delta/notch-like EGF repeat containing
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
GLI3 GLI family zinc finger 3
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
LMNB2 lamin B2
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
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
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
TMEM176B transmembrane protein 176B
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
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