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Human Gene Set: HP_ELEVATED_CIRCULATING_ACYLCARNITINE_CONCENTRATION
Standard name
HP_ELEVATED_CIRCULATING_ACYLCARNITINE_CONCENTRATION
Systematic name
M48914
Brief description
Elevated circulating acylcarnitine concentration
Full description or abstract
Concentration of acylcarnitine in the blood circulation above the upper limit of normal. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0045045
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0045045
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
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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 17 genes
Gene families
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Categorize
these 17 genes by gene family
Show members
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show
17 source identifiers mapped to 17 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
128989
128989
TANGO2
transport and golgi organization 2 homolog...
133686
133686
NADK2
NAD kinase 2, mitochondrial [Source:HGNC S...
1376
1376
CPT2
carnitine palmitoyltransferase 2 [Source:H...
23474
23474
ETHE1
ETHE1 persulfide dioxygenase [Source:HGNC ...
25974
25974
MMACHC
metabolism of cobalamin associated C [Sour...
27034
27034
ACAD8
acyl-CoA dehydrogenase family member 8 [So...
28976
28976
ACAD9
acyl-CoA dehydrogenase family member 9 [So...
3030
3030
HADHA
hydroxyacyl-CoA dehydrogenase trifunctiona...
326625
326625
MMAB
metabolism of cobalamin associated B [Sour...
35
35
ACADS
acyl-CoA dehydrogenase short chain [Source...
51241
51241
COX16
cytochrome c oxidase assembly factor COX16...
55065
55065
SLC52A1
solute carrier family 52 member 1 [Source:...
55788
55788
LMBRD1
LMBR1 domain containing 1 [Source:HGNC Sym...
5826
5826
ABCD4
ATP binding cassette subfamily D member 4 ...
788
788
SLC25A20
solute carrier family 25 member 20 [Source...
84693
84693
MCEE
methylmalonyl-CoA epimerase [Source:HGNC S...
90624
90624
LYRM7
LYR motif containing 7 [Source:HGNC Symbol...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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