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Human Gene Set: HP_IMMUNE_DYSREGULATION
Standard name
HP_IMMUNE_DYSREGULATION
Systematic name
M36104
Brief description
Immune dysregulation
Full description or abstract
Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. [PMID:26233425]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002958
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002958
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 11 genes
Gene families
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Categorize
these 11 genes by gene family
Show members
(
show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10043
10043
TOM1
target of myb1 membrane trafficking protein ...
201294
201294
UNC13D
unc-13 homolog D [Source:HGNC Symbol;Acc:HGN...
27040
27040
LAT
linker for activation of T cells [Source:HGN...
3953
3953
LEPR
leptin receptor [Source:HGNC Symbol;Acc:HGNC...
50943
50943
FOXP3
forkhead box P3 [Source:HGNC Symbol;Acc:HGNC...
5336
5336
PLCG2
phospholipase C gamma 2 [Source:HGNC Symbol;...
54
54
ACP5
acid phosphatase 5, tartrate resistant [Sour...
5551
5551
PRF1
perforin 1 [Source:HGNC Symbol;Acc:HGNC:9360]
6772
6772
STAT1
signal transducer and activator of transcrip...
6813
6813
STXBP2
syntaxin binding protein 2 [Source:HGNC Symb...
8676
8676
STX11
syntaxin 11 [Source:HGNC Symbol;Acc:HGNC:11429]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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