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Human Gene Set: HP_LETHAL_SKELETAL_DYSPLASIA
Standard name
HP_LETHAL_SKELETAL_DYSPLASIA
Systematic name
M36758
Brief description
Lethal skeletal dysplasia
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0005716
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0005716
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 10 genes
Gene families
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Categorize
these 10 genes by gene family
Show members
(
show
10 source identifiers mapped to 10 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGNC S...
1836
1836
SLC26A2
solute carrier family 26 member 2 [Source:HGN...
3930
3930
LBR
lamin B receptor [Source:HGNC Symbol;Acc:HGNC...
55112
55112
DYNC2I1
dynein 2 intermediate chain 1 [Source:HGNC Sy...
5745
5745
PTH1R
parathyroid hormone 1 receptor [Source:HGNC S...
57539
57539
WDR35
WD repeat domain 35 [Source:HGNC Symbol;Acc:H...
57560
57560
IFT80
intraflagellar transport 80 [Source:HGNC Symb...
79659
79659
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 [Source:HG...
89891
89891
DYNC2I2
dynein 2 intermediate chain 2 [Source:HGNC Sy...
9321
9321
TRIP11
thyroid hormone receptor interactor 11 [Sourc...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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MSigDB license terms here
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