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Human Gene Set: HP_RETROCOLLIS
Standard name
HP_RETROCOLLIS
Systematic name
M41261
Brief description
Retrocollis
Full description or abstract
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. [https://orcid.org/0000-0002-0736-9199, PMID:17917462]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002544
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002544
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
Compute overlaps
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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 9 genes
Gene families
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Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 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...
2521
2521
FUS
FUS RNA binding protein [Source:HGNC Symbol;A...
4137
4137
MAPT
microtubule associated protein tau [Source:HG...
57679
57679
ALS2
alsin Rho guanine nucleotide exchange factor ...
80208
80208
SPG11
SPG11 vesicle trafficking associated, spatacs...
8575
8575
PRKRA
protein activator of interferon induced prote...
9256
9256
TSPOAP1
TSPO associated protein 1 [Source:HGNC Symbol...
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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MSigDB license terms here
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