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Human Gene Set: HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE
Standard name
HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE
Systematic name
M46185
Brief description
EEG with photoparoxysmal response
Full description or abstract
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010852
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010852
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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10299
10299
MARCHF6
membrane associated ring-CH-type finger 6 [...
10715
10715
CERS1
ceramide synthase 1 [Source:HGNC Symbol;Acc...
1200
1200
TPP1
tripeptidyl peptidase 1 [Source:HGNC Symbol...
1203
1203
CLN5
CLN5 intracellular trafficking protein [Sou...
1509
1509
CTSD
cathepsin D [Source:HGNC Symbol;Acc:HGNC:2529]
2055
2055
CLN8
CLN8 transmembrane ER and ERGIC protein [So...
23219
23219
FBXO28
F-box protein 28 [Source:HGNC Symbol;Acc:HG...
2554
2554
GABRA1
gamma-aminobutyric acid type A receptor sub...
256471
256471
MFSD8
major facilitator superfamily domain contai...
2896
2896
GRN
granulin precursor [Source:HGNC Symbol;Acc:...
401474
401474
SAMD12
sterile alpha motif domain containing 12 [S...
54982
54982
CLN6
CLN6 transmembrane ER protein [Source:HGNC ...
55164
55164
SHQ1
SHQ1, H/ACA ribonucleoprotein assembly fact...
5538
5538
PPT1
palmitoyl-protein thioesterase 1 [Source:HG...
56910
56910
STARD7
StAR related lipid transfer domain containi...
80331
80331
DNAJC5
DnaJ heat shock protein family (Hsp40) memb...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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