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Human Gene Set: HP_NEONATAL_SHORT_LIMB_SHORT_STATURE
Standard name
HP_NEONATAL_SHORT_LIMB_SHORT_STATURE
Systematic name
M37307
Brief description
Neonatal short-limb short stature
Full description or abstract
A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0008921
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0008921
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 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1277
1277
COL1A1
collagen type I alpha 1 chain [Source:HGNC...
1278
1278
COL1A2
collagen type I alpha 2 chain [Source:HGNC...
1280
1280
COL2A1
collagen type II alpha 1 chain [Source:HGN...
132884
132884
EVC2
EvC ciliary complex subunit 2 [Source:HGNC...
1836
1836
SLC26A2
solute carrier family 26 member 2 [Source:...
2121
2121
EVC
EvC ciliary complex subunit 1 [Source:HGNC...
2261
2261
FGFR3
fibroblast growth factor receptor 3 [Sourc...
2735
2735
GLI1
GLI family zinc finger 1 [Source:HGNC Symb...
51626
51626
DYNC2LI1
dynein cytoplasmic 2 light intermediate ch...
5566
5566
PRKACA
protein kinase cAMP-activated catalytic su...
5567
5567
PRKACB
protein kinase cAMP-activated catalytic su...
5745
5745
PTH1R
parathyroid hormone 1 receptor [Source:HGN...
6023
6023
RMRP
RNA component of mitochondrial RNA process...
6662
6662
SOX9
SRY-box transcription factor 9 [Source:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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