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Human Gene Set: HP_FIBULAR_BOWING
Standard name
HP_FIBULAR_BOWING
Systematic name
M37556
Brief description
Fibular bowing
Full description or abstract
A bending or abnormal curvature of the fibula. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010502
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010502
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 12 genes
Gene families
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Categorize
these 12 genes by gene family
Show members
(
show
12 source identifiers mapped to 12 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1184
1184
CLCN5
chloride voltage-gated channel 5 [Source:H...
120227
120227
CYP2R1
cytochrome P450 family 2 subfamily R membe...
1302
1302
COL11A2
collagen type XI alpha 2 chain [Source:HGN...
142680
142680
SLC34A3
solute carrier family 34 member 3 [Source:...
1594
1594
CYP27B1
cytochrome P450 family 27 subfamily B memb...
2261
2261
FGFR3
fibroblast growth factor receptor 3 [Sourc...
22858
22858
CILK1
ciliogenesis associated kinase 1 [Source:H...
4853
4853
NOTCH2
notch receptor 2 [Source:HGNC Symbol;Acc:H...
5251
5251
PHEX
phosphate regulating endopeptidase X-linke...
57003
57003
CCDC47
coiled-coil domain containing 47 [Source:H...
7421
7421
VDR
vitamin D receptor [Source:HGNC Symbol;Acc...
871
871
SERPINH1
serpin family H member 1 [Source:HGNC Symb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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