Action Tremor Gene Set

Dataset DisGeNET Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. (Human Phenotype Ontology, HP_0002345)
External Link https://www.disgenet.org/browser/0/1/0/C0234376
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Genes

94 genes associated with the phenotype Action Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABHD12 abhydrolase domain containing 12
ACHE acetylcholinesterase (Yt blood group)
ADORA2A adenosine A2a receptor
ADRB2 adrenoceptor beta 2, surface
AFG3L2 AFG3-like AAA ATPase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANO10 anoctamin 10
ARSA arylsulfatase A
ATCAY ataxia, cerebellar, Cayman type
ATN1 atrophin 1
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAMTA1 calmodulin binding transcription activator 1
CCDC88C coiled-coil domain containing 88C
CHRM4 cholinergic receptor, muscarinic 4
CSTB cystatin B (stefin B)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CUL4B cullin 4B
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EPRS1 glutamyl-prolyl-tRNA synthetase 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FAM126A family with sequence similarity 126, member A
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXO7 F-box protein 7
FIG4 FIG4 phosphoinositide 5-phosphatase
FMR1 fragile X mental retardation 1
FXN frataxin
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GSS glutathione synthetase
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JPH3 junctophilin 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF1C kinesin family member 1C
LY6E lymphocyte antigen 6 complex, locus E
MAOA monoamine oxidase A
MPLKIP M-phase specific PLK1 interacting protein
MRE11 MRE11 homolog, double strand break repair nuclease
NFASC neurofascin
NGLY1 N-glycanase 1
NKX2-1 NK2 homeobox 1
NONO non-POU domain containing, octamer-binding
NOP56 NOP56 ribonucleoprotein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRICKLE1 prickle homolog 1 (Drosophila)
PSAP prosaposin
PTEN phosphatase and tensin homolog
RARS1 arginyl-tRNA synthetase 1
RFC1 replication factor C (activator 1) 1, 145kDa
RNF113A ring finger protein 113A
SACS sacsin molecular chaperone
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCP2 sterol carrier protein 2
SCYL1 SCY1-like 1 (S. cerevisiae)
SLC30A10 solute carrier family 30, member 10
SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPTBN2 spectrin, beta, non-erythrocytic 2
TBP TATA box binding protein
TENM4 teneurin transmembrane protein 4
TGM6 transglutaminase 6
TK2 thymidine kinase 2, mitochondrial
TMEM106B transmembrane protein 106B
TMEM70 transmembrane protein 70
TRH thyrotropin-releasing hormone
UBE3A ubiquitin protein ligase E3A
UFC1 ubiquitin-fold modifier conjugating enzyme 1
UROC1 urocanate hydratase 1
VIM vimentin
VLDLR very low density lipoprotein receptor
VWA3B von Willebrand factor A domain containing 3B
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial