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Human Gene Set: HP_AXIAL_DYSTONIA
Standard name
HP_AXIAL_DYSTONIA
Systematic name
M35879
Brief description
Axial dystonia
Full description or abstract
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002530
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002530
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
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grp
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gmt
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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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10280
10280
SIGMAR1
sigma non-opioid intracellular receptor 1 [So...
10558
10558
SPTLC1
serine palmitoyltransferase long chain base s...
1293
1293
COL6A3
collagen type VI alpha 3 chain [Source:HGNC S...
2521
2521
FUS
FUS RNA binding protein [Source:HGNC Symbol;A...
25792
25792
CIZ1
CDKN1A interacting zinc finger protein 1 [Sou...
27235
27235
COQ2
coenzyme Q2, polyprenyltransferase [Source:HG...
2774
2774
GNAL
G protein subunit alpha L [Source:HGNC Symbol...
4137
4137
MAPT
microtubule associated protein tau [Source:HG...
4722
4722
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S...
51102
51102
MECR
mitochondrial trans-2-enoyl-CoA reductase [So...
5521
5521
PPP2R2B
protein phosphatase 2 regulatory subunit Bbet...
5610
5610
EIF2AK2
eukaryotic translation initiation factor 2 al...
57679
57679
ALS2
alsin Rho guanine nucleotide exchange factor ...
80208
80208
SPG11
SPG11 vesicle trafficking associated, spatacs...
8398
8398
PLA2G6
phospholipase A2 group VI [Source:HGNC Symbol...
84842
84842
HPDL
4-hydroxyphenylpyruvate dioxygenase like [Sou...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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