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Human Gene Set: HP_ELEVATED_CIRCULATING_PHYTANIC_ACID_CONCENTRATION
Standard name
HP_ELEVATED_CIRCULATING_PHYTANIC_ACID_CONCENTRATION
Systematic name
M48788
Brief description
Elevated circulating phytanic acid concentration
Full description or abstract
An abnormal elevation of phytanic acid. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010571
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010571
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0010965
Abnormal circulating phytanic acid concentration
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:
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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 16 genes
Gene families
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these 16 genes by gene family
Show members
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16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
23600
23600
AMACR
alpha-methylacyl-CoA racemase [Source:HGNC Sym...
5189
5189
PEX1
peroxisomal biogenesis factor 1 [Source:HGNC S...
5190
5190
PEX6
peroxisomal biogenesis factor 6 [Source:HGNC S...
5191
5191
PEX7
peroxisomal biogenesis factor 7 [Source:HGNC S...
5192
5192
PEX10
peroxisomal biogenesis factor 10 [Source:HGNC ...
5193
5193
PEX12
peroxisomal biogenesis factor 12 [Source:HGNC ...
5194
5194
PEX13
peroxisomal biogenesis factor 13 [Source:HGNC ...
5195
5195
PEX14
peroxisomal biogenesis factor 14 [Source:HGNC ...
5264
5264
PHYH
phytanoyl-CoA 2-hydroxylase [Source:HGNC Symbo...
55670
55670
PEX26
peroxisomal biogenesis factor 26 [Source:HGNC ...
5824
5824
PEX19
peroxisomal biogenesis factor 19 [Source:HGNC ...
5828
5828
PEX2
peroxisomal biogenesis factor 2 [Source:HGNC S...
5830
5830
PEX5
peroxisomal biogenesis factor 5 [Source:HGNC S...
8504
8504
PEX3
peroxisomal biogenesis factor 3 [Source:HGNC S...
8799
8799
PEX11B
peroxisomal biogenesis factor 11 beta [Source:...
9409
9409
PEX16
peroxisomal biogenesis factor 16 [Source:HGNC ...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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