clonus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. (Human Phenotype Ontology, HP_0002169)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002169
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Genes

29 genes associated with the clonus 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
ADGRG1 adhesion G protein-coupled receptor G1
AMPD2 adenosine monophosphate deaminase 2
C12ORF65 chromosome 12 open reading frame 65
CAV1 caveolin 1, caveolae protein, 22kDa
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
FA2H fatty acid 2-hydroxylase
GBA2 glucosidase, beta (bile acid) 2
KCNT1 potassium channel, sodium activated subfamily T, member 1
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
MED17 mediator complex subunit 17
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
PC pyruvate carboxylase
RAB18 RAB18, member RAS oncogene family
REEP1 receptor accessory protein 1
RTN2 reticulon 2
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETX senataxin
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZNF592 zinc finger protein 592