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Human Gene Set: HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION
Standard name
HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION
Systematic name
M37106
Brief description
Abnormality of chorioretinal pigmentation
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007661
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007661
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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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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10166
10166
SLC25A15
solute carrier family 25 member 15 [Source...
125988
125988
MICOS13
mitochondrial contact site and cristae org...
1638
1638
DCT
dopachrome tautomerase [Source:HGNC Symbol...
3458
3458
IFNG
interferon gamma [Source:HGNC Symbol;Acc:H...
4942
4942
OAT
ornithine aminotransferase [Source:HGNC Sy...
5080
5080
PAX6
paired box 6 [Source:HGNC Symbol;Acc:HGNC:...
54551
54551
MAGEL2
MAGE family member L2 [Source:HGNC Symbol;...
6492
6492
SIM1
SIM bHLH transcription factor 1 [Source:HG...
65082
65082
VPS33A
VPS33A core subunit of CORVET and HOPS com...
7248
7248
TSC1
TSC complex subunit 1 [Source:HGNC Symbol;...
7249
7249
TSC2
TSC complex subunit 2 [Source:HGNC Symbol;...
7439
7439
BEST1
bestrophin 1 [Source:HGNC Symbol;Acc:HGNC:...
7490
7490
WT1
WT1 transcription factor [Source:HGNC Symb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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