abnormality of the basal ganglia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002134
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Genes

40 genes associated with the abnormality of the basal ganglia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATR ATR serine/threonine kinase
CA2 carbonic anhydrase II
CASR calcium-sensing receptor
CPT2 carnitine palmitoyltransferase 2
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ETHE1 ethylmalonic encephalopathy 1
FAM111A family with sequence similarity 111, member A
FOXP2 forkhead box P2
FTL ferritin, light polypeptide
GFM1 G elongation factor, mitochondrial 1
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
IFIH1 interferon induced with helicase C domain 1
LRRK2 leucine-rich repeat kinase 2
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MUT methylmalonyl CoA mutase
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PRNP prion protein
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RNASEH2B ribonuclease H2, subunit B
SAMHD1 SAM domain and HD domain 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TK2 thymidine kinase 2, mitochondrial
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TYROBP TYRO protein tyrosine kinase binding protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1