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Human Gene Set: HP_ABNORMAL_LIVER_ENZYME_ACTIVITY_OR_CONCENTRATION
Standard name
HP_ABNORMAL_LIVER_ENZYME_ACTIVITY_OR_CONCENTRATION
Systematic name
M48905
Brief description
Abnormal liver enzyme activity or concentration
Full description or abstract
Concentration or activity of an enzyme is above or below the limits of normal in liver tissue. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0034685
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0034685
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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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
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show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
132158
132158
GLYCTK
glycerate kinase [Source:HGNC Symbol;Acc:HG...
133686
133686
NADK2
NAD kinase 2, mitochondrial [Source:HGNC Sy...
162417
162417
NAGS
N-acetylglutamate synthase [Source:HGNC Sym...
1807
1807
DPYS
dihydropyrimidinase [Source:HGNC Symbol;Acc...
189
189
AGXT
alanine--glyoxylate aminotransferase [Sourc...
229
229
ALDOB
aldolase, fructose-bisphosphate B [Source:H...
2542
2542
SLC37A4
solute carrier family 37 member 4 [Source:H...
5009
5009
OTC
ornithine transcarbamylase [Source:HGNC Sym...
51733
51733
UPB1
beta-ureidopropionase 1 [Source:HGNC Symbol...
5256
5256
PHKA2
phosphorylase kinase regulatory subunit alp...
5257
5257
PHKB
phosphorylase kinase regulatory subunit bet...
5261
5261
PHKG2
phosphorylase kinase catalytic subunit gamm...
9380
9380
GRHPR
glyoxylate and hydroxypyruvate reductase [S...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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