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Human Gene Set: HP_THICKENED_CORTEX_OF_LONG_BONES
Standard name
HP_THICKENED_CORTEX_OF_LONG_BONES
Systematic name
M48686
Brief description
Thickened cortex of long bones
Full description or abstract
Abnormal thickening of the cortex of long bones. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000935
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000935
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0100039
Thickened cortex of bones
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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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 14 genes
Gene families
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these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1277
1277
COL1A1
collagen type I alpha 1 chain [Source:HGNC ...
203859
203859
ANO5
anoctamin 5 [Source:HGNC Symbol;Acc:HGNC:27...
26040
26040
SETBP1
SET binding protein 1 [Source:HGNC Symbol;A...
3572
3572
IL6ST
interleukin 6 cytokine family signal transd...
3977
3977
LIFR
LIF receptor subunit alpha [Source:HGNC Sym...
4041
4041
LRP5
LDL receptor related protein 5 [Source:HGNC...
4125
4125
MAN2B1
mannosidase alpha class 2B member 1 [Source...
4591
4591
TRIM37
tripartite motif containing 37 [Source:HGNC...
4763
4763
NF1
neurofibromin 1 [Source:HGNC Symbol;Acc:HGN...
50964
50964
SOST
sclerostin [Source:HGNC Symbol;Acc:HGNC:13771]
63901
63901
FAM111A
FAM111 trypsin like peptidase A [Source:HGN...
6905
6905
TBCE
tubulin folding cofactor E [Source:HGNC Sym...
7040
7040
TGFB1
transforming growth factor beta 1 [Source:H...
8312
8312
AXIN1
axin 1 [Source:HGNC Symbol;Acc:HGNC:903]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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