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Human Gene Set: HP_UPPER_EYELID_COLOBOMA
Standard name
HP_UPPER_EYELID_COLOBOMA
Systematic name
M34853
Brief description
Upper eyelid coloboma
Full description or abstract
A short discontinuity of the margin of the upper eyelid. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000636
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000636
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 9 genes
Gene families
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Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1009
1009
CDH11
cadherin 11 [Source:HGNC Symbol;Acc:HGNC:1...
10992
10992
SF3B2
splicing factor 3b subunit 2 [Source:HGNC ...
158326
158326
FREM1
FRAS1 related extracellular matrix 1 [Sour...
25885
25885
POLR1A
RNA polymerase I subunit A [Source:HGNC Sy...
29957
29957
SLC25A24
solute carrier family 25 member 24 [Source...
6949
6949
TCOF1
treacle ribosome biogenesis factor 1 [Sour...
7291
7291
TWIST1
twist family bHLH transcription factor 1 [...
80144
80144
FRAS1
Fraser extracellular matrix complex subuni...
8092
8092
ALX1
ALX homeobox 1 [Source:HGNC Symbol;Acc:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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