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Human Gene Set: HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM
Standard name
HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM
Systematic name
M37114
Brief description
Undetectable light- and dark-adapted electroretinogram
Full description or abstract
Absence of the combined rod-and-cone response on electroretinogram. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007688
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007688
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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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 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
10002
10002
NR2E3
nuclear receptor subfamily 2 group E member...
103
103
ADAR
adenosine deaminase RNA specific [Source:HG...
23636
23636
NUP62
nucleoporin 62 [Source:HGNC Symbol;Acc:HGNC...
23746
23746
AIPL1
aryl hydrocarbon receptor interacting prote...
3614
3614
IMPDH1
inosine monophosphate dehydrogenase 1 [Sour...
375298
375298
CERKL
ceramide kinase like [Source:HGNC Symbol;Ac...
4508
4508
MT-ATP6
mitochondrially encoded ATP synthase membra...
5130
5130
PCYT1A
phosphate cytidylyltransferase 1A, choline ...
53371
53371
NUP54
nucleoporin 54 [Source:HGNC Symbol;Acc:HGNC...
57096
57096
RPGRIP1
RPGR interacting protein 1 [Source:HGNC Sym...
6100
6100
RP9
RP9 pre-mRNA splicing factor [Source:HGNC S...
6101
6101
RP1
RP1 axonemal microtubule associated [Source...
6121
6121
RPE65
retinoid isomerohydrolase RPE65 [Source:HGN...
7401
7401
CLRN1
clarin 1 [Source:HGNC Symbol;Acc:HGNC:12605]
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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