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Human Gene Set: HP_PAROXYSMAL_DYSKINESIA
Standard name
HP_PAROXYSMAL_DYSKINESIA
Systematic name
M37009
Brief description
Paroxysmal dyskinesia
Full description or abstract
Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007166
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007166
Filtered by similarity
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Source species
Homo sapiens
Contributed by
Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references
Download gene set
format:
grp
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gmt
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xml
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json
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TSV metadata
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H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
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NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 15 genes
Gene families
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Categorize
these 15 genes by gene family
Show members
(
show
15 source identifiers mapped to 15 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
111
111
ADCY5
adenylate cyclase 5 [Source:HGNC Symbol;Acc...
112476
112476
PRRT2
proline rich transmembrane protein 2 [Sourc...
25953
25953
PNKD
PNKD metallo-beta-lactamase domain containi...
25970
25970
SH2B1
SH2B adaptor protein 1 [Source:HGNC Symbol;...
2902
2902
GRIN1
glutamate ionotropic receptor NMDA type sub...
3778
3778
KCNMA1
potassium calcium-activated channel subfami...
477
477
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 ...
478
478
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 ...
51102
51102
MECR
mitochondrial trans-2-enoyl-CoA reductase [...
5138
5138
PDE2A
phosphodiesterase 2A [Source:HGNC Symbol;Ac...
6334
6334
SCN8A
sodium voltage-gated channel alpha subunit ...
6507
6507
SLC1A3
solute carrier family 1 member 3 [Source:HG...
6513
6513
SLC2A1
solute carrier family 2 member 1 [Source:HG...
6709
6709
SPTAN1
spectrin alpha, non-erythrocytic 1 [Source:...
773
773
CACNA1A
calcium voltage-gated channel subunit alpha...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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