login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION
Standard name
HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION
Systematic name
M41449
Brief description
Abnormal urine alpha-ketoglutarate concentration
Full description or abstract
A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012401
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012401
Filtered by similarity
?
(
show
1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0012402
Increased urine alpha-ketoglutarate 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:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
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
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
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
?
Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10157
10157
AASS
aminoadipate-semialdehyde synthase [Source:H...
1738
1738
DLD
dihydrolipoamide dehydrogenase [Source:HGNC ...
27010
27010
TPK1
thiamin pyrophosphokinase 1 [Source:HGNC Sym...
27247
27247
NFU1
NFU1 iron-sulfur cluster scaffold [Source:HG...
2746
2746
GLUD1
glutamate dehydrogenase 1 [Source:HGNC Symbo...
4967
4967
OGDH
oxoglutarate dehydrogenase [Source:HGNC Symb...
51241
51241
COX16
cytochrome c oxidase assembly factor COX16 [...
526
526
ATP6V1B2
ATPase H+ transporting V1 subunit B2 [Source...
57465
57465
TBC1D24
TBC1 domain family member 24 [Source:HGNC Sy...
6390
6390
SDHB
succinate dehydrogenase complex iron sulfur ...
64849
64849
SLC13A3
solute carrier family 13 member 3 [Source:HG...
6576
6576
SLC25A1
solute carrier family 25 member 1 [Source:HG...
8659
8659
ALDH4A1
aldehyde dehydrogenase 4 family member A1 [S...
9488
9488
PIGB
phosphatidylinositol glycan anchor biosynthe...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.