abnormality of extrapyramidal motor function Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). (Human Phenotype Ontology, HP_0002071)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002071
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Genes

112 genes associated with the abnormality of extrapyramidal motor function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C10ORF2 chromosome 10 open reading frame 2
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COASY CoA synthase
CP ceruloplasmin (ferroxidase)
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
CTSF cathepsin F
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DCTN1 dynactin 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DPYS dihydropyrimidinase
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELN elastin
ETHE1 ethylmalonic encephalopathy 1
FBXO7 F-box protein 7
FKTN fukutin
FMR1 fragile X mental retardation 1
FTL ferritin, light polypeptide
GAMT guanidinoacetate N-methyltransferase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCH1 GTP cyclohydrolase 1
GIGYF2 GRB10 interacting GYF protein 2
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GM2A GM2 ganglioside activator
GRN granulin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HEXA hexosaminidase A (alpha polypeptide)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HTRA1 HtrA serine peptidase 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
JPH3 junctophilin 3
KIF5A kinesin family member 5A
L2HGDH L-2-hydroxyglutarate dehydrogenase
LIMK1 LIM domain kinase 1
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
MAPT microtubule-associated protein tau
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MECP2 methyl CpG binding protein 2
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NOTCH3 notch 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
POLG polymerase (DNA directed), gamma
POT1 protection of telomeres 1
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PSEN1 presenilin 1
PTS 6-pyruvoyltetrahydropterin synthase
RFC2 replication factor C (activator 1) 2, 40kDa
SERAC1 serine active site containing 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC30A10 solute carrier family 30, member 10
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCB synuclein, beta
SYNJ1 synaptojanin 1
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TERT telomerase reverse transcriptase
TH tyrosine hydroxylase
TREX1 three prime repair exonuclease 1
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTC19 tetratricopeptide repeat domain 19
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
WDR45 WD repeat domain 45