parkinsonism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. (Human Phenotype Ontology, HP_0001300)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001300
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Genes

51 genes associated with the parkinsonism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATXN3 ataxin 3
C10ORF2 chromosome 10 open reading frame 2
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CLN3 ceroid-lipofuscinosis, neuronal 3
DCTN1 dynactin 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
FBXO7 F-box protein 7
FMR1 fragile X mental retardation 1
FTL ferritin, light polypeptide
GCH1 GTP cyclohydrolase 1
GIGYF2 GRB10 interacting GYF protein 2
GRN granulin
HTRA2 HtrA serine peptidase 2
KIF5A kinesin family member 5A
LRRK2 leucine-rich repeat kinase 2
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
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)
POLG polymerase (DNA directed), gamma
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
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
TBP TATA box binding protein
TH tyrosine hydroxylase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
WDR45 WD repeat domain 45