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Human Gene Set: HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION
Standard name
HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION
Systematic name
M37684
Brief description
Abnormal circulating branched chain amino acid concentration
Full description or abstract
Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0010892
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0010892
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
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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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 9 genes
Gene families
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Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10295
10295
BCKDK
branched chain keto acid dehydrogenase kina...
10367
10367
MICU1
mitochondrial calcium uptake 1 [Source:HGNC...
152926
152926
PPM1K
protein phosphatase, Mg2+/Mn2+ dependent 1K...
1738
1738
DLD
dihydrolipoamide dehydrogenase [Source:HGNC...
506
506
ATP5F1B
ATP synthase F1 subunit beta [Source:HGNC S...
56922
56922
MCCC1
methylcrotonyl-CoA carboxylase subunit 1 [S...
587
587
BCAT2
branched chain amino acid transaminase 2 [S...
593
593
BCKDHA
branched chain keto acid dehydrogenase E1 s...
64087
64087
MCCC2
methylcrotonyl-CoA carboxylase subunit 2 [S...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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