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Human Gene Set: HP_SHORT_LOWER_LIMBS
Standard name
HP_SHORT_LOWER_LIMBS
Systematic name
M36835
Brief description
Short lower limbs
Full description or abstract
Shortening of the legs related to developmental hypoplasia of the bones of the leg. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0006385
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0006385
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
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grp
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gmt
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xml
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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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GTEx compendium
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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
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC...
151188
151188
ARL6IP6
ADP ribosylation factor like GTPase 6 inter...
1836
1836
SLC26A2
solute carrier family 26 member 2 [Source:H...
2131
2131
EXT1
exostosin glycosyltransferase 1 [Source:HGN...
2132
2132
EXT2
exostosin glycosyltransferase 2 [Source:HGN...
2335
2335
FN1
fibronectin 1 [Source:HGNC Symbol;Acc:HGNC:...
23394
23394
ADNP
activity dependent neuroprotector homeobox ...
249
249
ALPL
alkaline phosphatase, biomineralization ass...
2767
2767
GNA11
G protein subunit alpha 11 [Source:HGNC Sym...
3911
3911
LAMA5
laminin subunit alpha 5 [Source:HGNC Symbol...
4322
4322
MMP13
matrix metallopeptidase 13 [Source:HGNC Sym...
5479
5479
PPIB
peptidylprolyl isomerase B [Source:HGNC Sym...
9241
9241
NOG
noggin [Source:HGNC Symbol;Acc:HGNC:7866]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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