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Human Gene Set: HP_EQUINOVARUS_DEFORMITY
Standard name
HP_EQUINOVARUS_DEFORMITY
Systematic name
M37186
Brief description
Equinovarus deformity
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0008110
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0008110
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
10667
10667
FARS2
phenylalanyl-tRNA synthetase 2, mitochondria...
1836
1836
SLC26A2
solute carrier family 26 member 2 [Source:HG...
2074
2074
ERCC6
ERCC excision repair 6, chromatin remodeling...
23230
23230
VPS13A
vacuolar protein sorting 13 homolog A [Sourc...
3030
3030
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional ...
3032
3032
HADHB
hydroxyacyl-CoA dehydrogenase trifunctional ...
4010
4010
LMX1B
LIM homeobox transcription factor 1 beta [So...
526
526
ATP6V1B2
ATPase H+ transporting V1 subunit B2 [Source...
5376
5376
PMP22
peripheral myelin protein 22 [Source:HGNC Sy...
55681
55681
SCYL2
SCY1 like pseudokinase 2 [Source:HGNC Symbol...
57222
57222
ERGIC1
endoplasmic reticulum-golgi intermediate com...
57465
57465
TBC1D24
TBC1 domain family member 24 [Source:HGNC Sy...
84570
84570
COL25A1
collagen type XXV alpha 1 chain [Source:HGNC...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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