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Human Gene Set: HP_BILATERAL_COXA_VALGA
Standard name
HP_BILATERAL_COXA_VALGA
Systematic name
M37618
Brief description
Bilateral coxa valga
Full description or abstract
The presence of bilateral coxa valga. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010665
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010665
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
1297
1297
COL9A1
collagen type IX alpha 1 chain [Source:HGNC Sy...
1298
1298
COL9A2
collagen type IX alpha 2 chain [Source:HGNC Sy...
1299
1299
COL9A3
collagen type IX alpha 3 chain [Source:HGNC Sy...
2074
2074
ERCC6
ERCC excision repair 6, chromatin remodeling f...
4010
4010
LMX1B
LIM homeobox transcription factor 1 beta [Sour...
4125
4125
MAN2B1
mannosidase alpha class 2B member 1 [Source:HG...
5144
5144
PDE4D
phosphodiesterase 4D [Source:HGNC Symbol;Acc:H...
51506
51506
UFC1
ubiquitin-fold modifier conjugating enzyme 1 [...
57003
57003
CCDC47
coiled-coil domain containing 47 [Source:HGNC ...
6812
6812
STXBP1
syntaxin binding protein 1 [Source:HGNC Symbol...
7043
7043
TGFB3
transforming growth factor beta 3 [Source:HGNC...
84342
84342
COG8
component of oligomeric golgi complex 8 [Sourc...
9690
9690
UBE3C
ubiquitin protein ligase E3C [Source:HGNC Symb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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