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Human Gene Set: HP_RETINAL_ARTERIAL_TORTUOSITY
Standard name
HP_RETINAL_ARTERIAL_TORTUOSITY
Systematic name
M48681
Brief description
Retinal arterial tortuosity
Full description or abstract
The presence of an increased number of twists and turns of the retinal artery. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000631
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000631
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0007768
Central retinal vessel vascular tortuosity
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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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
4508
4508
MT-ATP6
mitochondrially encoded ATP synthase membrane...
4514
4514
MT-CO3
mitochondrially encoded cytochrome c oxidase ...
4519
4519
MT-CYB
mitochondrially encoded cytochrome b [Source:...
4535
4535
MT-ND1
mitochondrially encoded NADH:ubiquinone oxido...
4536
4536
MT-ND2
mitochondrially encoded NADH:ubiquinone oxido...
4538
4538
MT-ND4
mitochondrially encoded NADH:ubiquinone oxido...
4539
4539
MT-ND4L
mitochondrially encoded NADH:ubiquinone oxido...
4540
4540
MT-ND5
mitochondrially encoded NADH:ubiquinone oxido...
4541
4541
MT-ND6
mitochondrially encoded NADH:ubiquinone oxido...
4750
4750
NEK1
NIMA related kinase 1 [Source:HGNC Symbol;Acc...
84277
84277
DNAJC30
DnaJ heat shock protein family (Hsp40) member...
85465
85465
SELENOI
selenoprotein I [Source:HGNC Symbol;Acc:HGNC:...
90952
90952
ESAM
endothelial cell adhesion molecule [Source:HG...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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