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Human Gene Set: HP_LOWER_EYELID_COLOBOMA
Standard name
HP_LOWER_EYELID_COLOBOMA
Systematic name
M34862
Brief description
Lower eyelid coloboma
Full description or abstract
A short discontinuity of the margin of the lower eyelid. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000652
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000652
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
10262
10262
SF3B4
splicing factor 3b subunit 4 [Source:HGNC Sy...
10907
10907
TXNL4A
thioredoxin like 4A [Source:HGNC Symbol;Acc:...
1909
1909
EDNRA
endothelin receptor type A [Source:HGNC Symb...
25885
25885
POLR1A
RNA polymerase I subunit A [Source:HGNC Symb...
284252
284252
KCTD1
potassium channel tetramerization domain con...
51082
51082
POLR1D
RNA polymerase I and III subunit D [Source:H...
54101
54101
RIPK4
receptor interacting serine/threonine kinase...
6949
6949
TCOF1
treacle ribosome biogenesis factor 1 [Source...
84172
84172
POLR1B
RNA polymerase I subunit B [Source:HGNC Symb...
9533
9533
POLR1C
RNA polymerase I and III subunit C [Source:H...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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