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Human Gene Set: HP_HYPERAUTOFLUORESCENT_MACULAR_LESION
Standard name
HP_HYPERAUTOFLUORESCENT_MACULAR_LESION
Systematic name
M43483
Brief description
Hyperautofluorescent macular lesion
Full description or abstract
Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0030631
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0030631
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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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
157657
157657
CFAP418
cilia and flagella associated protein 418 [...
2202
2202
EFEMP1
EGF containing fibulin extracellular matrix...
22901
22901
ARSG
arylsulfatase G [Source:HGNC Symbol;Acc:HGN...
2978
2978
GUCA1A
guanylate cyclase activator 1A [Source:HGNC...
3000
3000
GUCY2D
guanylate cyclase 2D, retinal [Source:HGNC ...
3075
3075
CFH
complement factor H [Source:HGNC Symbol;Acc...
3426
3426
CFI
complement factor I [Source:HGNC Symbol;Acc...
55624
55624
POMGNT1
protein O-linked mannose N-acetylglucosamin...
582
582
BBS1
Bardet-Biedl syndrome 1 [Source:HGNC Symbol...
5961
5961
PRPH2
peripherin 2 [Source:HGNC Symbol;Acc:HGNC:9...
79140
79140
CCDC28B
coiled-coil domain containing 28B [Source:H...
83723
83723
TLCD3B
TLC domain containing 3B [Source:HGNC Symbo...
84100
84100
ARL6
ADP ribosylation factor like GTPase 6 [Sour...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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