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Human Gene Set: HP_ARM_DYSTONIA
Standard name
HP_ARM_DYSTONIA
Systematic name
M41554
Brief description
Arm dystonia
Full description or abstract
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0031960
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0031960
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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 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...
1737
1737
DLAT
dihydrolipoamide S-acetyltransferase [Source:...
23345
23345
SYNE1
spectrin repeat containing nuclear envelope p...
2512
2512
FTL
ferritin light chain [Source:HGNC Symbol;Acc:...
2521
2521
FUS
FUS RNA binding protein [Source:HGNC Symbol;A...
478
478
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 [S...
57679
57679
ALS2
alsin Rho guanine nucleotide exchange factor ...
63982
63982
ANO3
anoctamin 3 [Source:HGNC Symbol;Acc:HGNC:14004]
64601
64601
VPS16
VPS16 core subunit of CORVET and HOPS complex...
80208
80208
SPG11
SPG11 vesicle trafficking associated, spatacs...
84909
84909
AOPEP
aminopeptidase O (putative) [Source:HGNC Symb...
9757
9757
KMT2B
lysine methyltransferase 2B [Source:HGNC Symb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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