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Human Gene Set: HP_POSTERIOR_STAPHYLOMA
Standard name
HP_POSTERIOR_STAPHYLOMA
Systematic name
M46281
Brief description
Posterior staphyloma
Full description or abstract
A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [https://orcid.org/0000-0002-0736-9199, PMID:25376120]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0030856
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0030856
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
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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
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 8 genes
Gene families
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these 8 genes by gene family
Show members
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show
8 source identifiers mapped to 8 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
3030
3030
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional m...
402
402
ARL2
ADP ribosylation factor like GTPase 2 [Source...
4157
4157
MC1R
melanocortin 1 receptor [Source:HGNC Symbol;A...
4948
4948
OCA2
OCA2 melanosomal transmembrane protein [Sourc...
50939
50939
IMPG2
interphotoreceptor matrix proteoglycan 2 [Sou...
51604
51604
PIGT
phosphatidylinositol glycan anchor biosynthes...
7439
7439
BEST1
bestrophin 1 [Source:HGNC Symbol;Acc:HGNC:12703]
755
755
CFAP410
cilia and flagella associated protein 410 [So...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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