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Human Gene Set: HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL
Standard name
HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL
Systematic name
M48711
Brief description
Intracellular accumulation of autofluorescent lipopigment storage material
Full description or abstract
The intracellular accumulation of autofluorescent storage material. [https://orcid.org/0000-0002-0736-9199, PMID:16455164]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0003204
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0003204
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0003208
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
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
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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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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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these 13 genes by gene family
Show members
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13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10397
10397
NDRG1
N-myc downstream regulated 1 [Source:HGNC Sy...
1200
1200
TPP1
tripeptidyl peptidase 1 [Source:HGNC Symbol;...
1201
1201
CLN3
CLN3 lysosomal/endosomal transmembrane prote...
1203
1203
CLN5
CLN5 intracellular trafficking protein [Sour...
1509
1509
CTSD
cathepsin D [Source:HGNC Symbol;Acc:HGNC:2529]
154881
154881
KCTD7
potassium channel tetramerization domain con...
2055
2055
CLN8
CLN8 transmembrane ER and ERGIC protein [Sou...
256471
256471
MFSD8
major facilitator superfamily domain contain...
2896
2896
GRN
granulin precursor [Source:HGNC Symbol;Acc:H...
54982
54982
CLN6
CLN6 transmembrane ER protein [Source:HGNC S...
5538
5538
PPT1
palmitoyl-protein thioesterase 1 [Source:HGN...
80331
80331
DNAJC5
DnaJ heat shock protein family (Hsp40) membe...
8722
8722
CTSF
cathepsin F [Source:HGNC Symbol;Acc:HGNC:2531]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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