action tremor Gene Set

Dataset HPO Gene-Disease 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 http://compbio.charite.de/hpoweb/showterm?id=HP:0002345
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Genes

39 genes associated with the action tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABHD12 abhydrolase domain containing 12
ATCAY ataxia, cerebellar, Cayman type
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATXN2 ataxin 2
ELOVL4 ELOVL fatty acid elongase 4
FAM126A family with sequence similarity 126, member A
FGF14 fibroblast growth factor 14
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
GCH1 GTP cyclohydrolase 1
GJC2 gap junction protein, gamma 2, 47kDa
GSS glutathione synthetase
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JPH3 junctophilin 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF1C kinesin family member 1C
MPZ myelin protein zero
PARK7 parkinson protein 7
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PTEN phosphatase and tensin homolog
SCARB2 scavenger receptor class B, member 2
SCP2 sterol carrier protein 2
SPTBN2 spectrin, beta, non-erythrocytic 2
TBP TATA box binding protein
TGM6 transglutaminase 6
TPP1 tripeptidyl peptidase I
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VLDLR very low density lipoprotein receptor