cerebellar atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atrophy (wasting) of the cerebellum. (Human Phenotype Ontology, HP_0001272)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001272
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Genes

135 genes associated with the cerebellar atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABHD12 abhydrolase domain containing 12
ACO2 aconitase 2, mitochondrial
ACY1 aminoacylase 1
ADCK3 aarF domain containing kinase 3
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
ALG3 ALG3, alpha-1,3- mannosyltransferase
ANO10 anoctamin 10
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
APTX aprataxin
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN10 ataxin 10
ATXN3 ataxin 3
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COG5 component of oligomeric golgi complex 5
COG8 component of oligomeric golgi complex 8
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ9 coenzyme Q9
CTSD cathepsin D
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
EEF2 eukaryotic translation elongation factor 2
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
EXOSC3 exosome component 3
FA2H fatty acid 2-hydroxylase
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
FGF14 fibroblast growth factor 14
FKRP fukutin related protein
FMR1 fragile X mental retardation 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GBA2 glucosidase, beta (bile acid) 2
GJB1 gap junction protein, beta 1, 32kDa
GRM1 glutamate receptor, metabotropic 1
GRN granulin
HEPACAM hepatic and glial cell adhesion molecule
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCTD7 potassium channel tetramerization domain containing 7
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KIF1C kinesin family member 1C
L2HGDH L-2-hydroxyglutarate dehydrogenase
MAN2B1 mannosidase, alpha, class 2B, member 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MCOLN1 mucolipin 1
MFSD8 major facilitator superfamily domain containing 8
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MVK mevalonate kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NOP56 NOP56 ribonucleoprotein
NUBPL nucleotide binding protein-like
PCNA proliferating cell nuclear antigen
PDYN prodynorphin
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKCG protein kinase C, gamma
PRNP prion protein
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RNASEH2A ribonuclease H2, subunit A
RNF216 ring finger protein 216
SCARB2 scavenger receptor class B, member 2
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SETX senataxin
SIL1 SIL1 nucleotide exchange factor
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUMF1 sulfatase modifying factor 1
SYT14 synaptotagmin XIV
TBC1D20 TBC1 domain family, member 20
TBP TATA box binding protein
TGM6 transglutaminase 6
TPP1 tripeptidyl peptidase I
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TUBB4A tubulin, beta 4A class IVa
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VLDLR very low density lipoprotein receptor
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDR45 WD repeat domain 45
WDR81 WD repeat domain 81
WWOX WW domain containing oxidoreductase
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592