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Human Gene Set: HP_ENLARGED_JOINTS
Standard name
HP_ENLARGED_JOINTS
Systematic name
M36142
Brief description
Enlarged joints
Full description or abstract
Increase in size of one or more joints. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0003037
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0003037
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 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
10847
10847
SRCAP
Snf2 related CREBBP activator protein [Sour...
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC...
1302
1302
COL11A2
collagen type XI alpha 2 chain [Source:HGNC...
3239
3239
HOXD13
homeobox D13 [Source:HGNC Symbol;Acc:HGNC:5...
374654
374654
KIF7
kinesin family member 7 [Source:HGNC Symbol...
3977
3977
LIFR
LIF receptor subunit alpha [Source:HGNC Sym...
4148
4148
MATN3
matrilin 3 [Source:HGNC Symbol;Acc:HGNC:6909]
59341
59341
TRPV4
transient receptor potential cation channel...
6595
6595
SMARCA2
SWI/SNF related, matrix associated, actin d...
7994
7994
KAT6A
lysine acetyltransferase 6A [Source:HGNC Sy...
83452
83452
RAB33B
RAB33B, member RAS oncogene family [Source:...
8838
8838
CCN6
cellular communication network factor 6 [So...
9469
9469
CHST3
carbohydrate sulfotransferase 3 [Source:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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