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Human Gene Set: HP_SIRENOMELIA
Standard name
HP_SIRENOMELIA
Systematic name
M37553
Brief description
Sirenomelia
Full description or abstract
A developmental defect in which the legs are fused together. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010497
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010497
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
|
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 11 genes
Gene families
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Categorize
these 11 genes by gene family
Show members
(
show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
207
207
AKT1
AKT serine/threonine kinase 1 [Source:HGNC S...
26281
26281
FGF20
fibroblast growth factor 20 [Source:HGNC Sym...
2674
2674
GFRA1
GDNF family receptor alpha 1 [Source:HGNC Sy...
51339
51339
DACT1
dishevelled binding antagonist of beta caten...
526
526
ATP6V1B2
ATPase H+ transporting V1 subunit B2 [Source...
5728
5728
PTEN
phosphatase and tensin homolog [Source:HGNC ...
57465
57465
TBC1D24
TBC1 domain family member 24 [Source:HGNC Sy...
5979
5979
RET
ret proto-oncogene [Source:HGNC Symbol;Acc:H...
7484
7484
WNT9B
Wnt family member 9B [Source:HGNC Symbol;Acc...
80000
80000
GREB1L
GREB1 like retinoic acid receptor coactivato...
8516
8516
ITGA8
integrin subunit alpha 8 [Source:HGNC Symbol...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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