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Human Gene Set: HP_CHERRY_RED_SPOT_OF_THE_MACULA
Standard name
HP_CHERRY_RED_SPOT_OF_THE_MACULA
Systematic name
M37631
Brief description
Cherry red spot of the macula
Full description or abstract
Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010729
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010729
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
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grp
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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 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
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show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10730
10730
YME1L1
YME1 like 1 ATPase [Source:HGNC Symbol;Acc:HG...
1615
1615
DARS1
aspartyl-tRNA synthetase 1 [Source:HGNC Symbo...
2517
2517
FUCA1
alpha-L-fucosidase 1 [Source:HGNC Symbol;Acc:...
2581
2581
GALC
galactosylceramidase [Source:HGNC Symbol;Acc:...
2720
2720
GLB1
galactosidase beta 1 [Source:HGNC Symbol;Acc:...
2760
2760
GM2A
ganglioside GM2 activator [Source:HGNC Symbol...
3073
3073
HEXA
hexosaminidase subunit alpha [Source:HGNC Sym...
3074
3074
HEXB
hexosaminidase subunit beta [Source:HGNC Symb...
427
427
ASAH1
N-acylsphingosine amidohydrolase 1 [Source:HG...
4758
4758
NEU1
neuraminidase 1 [Source:HGNC Symbol;Acc:HGNC:...
5476
5476
CTSA
cathepsin A [Source:HGNC Symbol;Acc:HGNC:9251]
5660
5660
PSAP
prosaposin [Source:HGNC Symbol;Acc:HGNC:9498]
6609
6609
SMPD1
sphingomyelin phosphodiesterase 1 [Source:HGN...
79583
79583
TMEM231
transmembrane protein 231 [Source:HGNC Symbol...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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