purkinje cell degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex (Mammalian Phenotype Ontology, MP_0000876)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000876
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Genes

49 gene mutations causing the purkinje cell degeneration 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
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGTPBP1 ATP/GTP binding protein 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANK1 ankyrin 1, erythrocytic
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ARCN1 archain 1
ARSA arylsulfatase A
ATM ATM serine/threonine kinase
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CERS1 ceramide synthase 1
CHP1 calcineurin-like EF-hand protein 1
CLCN7 chloride channel, voltage-sensitive 7
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 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
KL klotho
NAGLU N-acetylglucosaminidase, alpha
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
PPT1 palmitoyl-protein thioesterase 1
PRNP prion protein
PSAP prosaposin
QKI QKI, KH domain containing, RNA binding
RELN reelin
RORA RAR-related orphan receptor A
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SIL1 SIL1 nucleotide exchange factor
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SPTBN2 spectrin, beta, non-erythrocytic 2
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TPP1 tripeptidyl peptidase I
UBE4B ubiquitination factor E4B
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VIM vimentin