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Human Gene Set: HP_LOWER_LIMB_UNDERGROWTH
Standard name
HP_LOWER_LIMB_UNDERGROWTH
Systematic name
M37436
Brief description
Lower limb undergrowth
Full description or abstract
Leg shortening because of underdevelopment of one or more bones of the lower extremity. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0009816
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0009816
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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1147
1147
CHUK
component of inhibitor of nuclear factor ka...
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...
6473
6473
SHOX
SHOX homeobox [Source:HGNC Symbol;Acc:HGNC:...
9060
9060
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synth...
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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