myoclonus Gene Set
Dataset
GeneRIF Biological Term Annotations
Category
structural or functional annotations
Type
biological term
Description
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. (Human Phenotype Ontology , HP_0001336 )
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Genes
24 genes co-occuring with the biological term myoclonus in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Symbol
Name
AAAS
achalasia, adrenocortical insufficiency, alacrimia
ACMSD
aminocarboxymuconate semialdehyde decarboxylase
ADRA2B
adrenoceptor alpha 2B
CLN6
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COL6A2
collagen, type VI, alpha 2
CSTB
cystatin B (stefin B)
EPM2A
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GFAP
glial fibrillary acidic protein
GOSR2
golgi SNAP receptor complex member 2
KCNC1
potassium channel, voltage gated Shaw related subfamily C, member 1
KCNQ2
potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3
potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7
potassium channel tetramerization domain containing 7
MAG
myelin associated glycoprotein
MEIS1
Meis homeobox 1
NEU1
sialidase 1 (lysosomal sialidase)
NOL3
nucleolar protein 3 (apoptosis repressor with CARD domain)
PPP1R3D
protein phosphatase 1, regulatory subunit 3D
PRICKLE1
prickle homolog 1 (Drosophila)
PRNP
prion protein
PSEN1
presenilin 1
SCARB2
scavenger receptor class B, member 2
SGCE
sarcoglycan, epsilon
TOR1A
torsin family 1, member A (torsin A)