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Human Gene Set: HP_SEVERE_LACTIC_ACIDOSIS
Standard name
HP_SEVERE_LACTIC_ACIDOSIS
Systematic name
M36600
Brief description
Severe lactic acidosis
Full description or abstract
A severe form of lactic acidemia. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0004900
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0004900
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 14 genes
Gene families
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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
10102
10102
TSFM
Ts translation elongation factor, mitochon...
10128
10128
LRPPRC
leucine rich pentatricopeptide repeat cont...
115286
115286
SLC25A26
solute carrier family 25 member 26 [Source...
291
291
SLC25A4
solute carrier family 25 member 4 [Source:...
4556
4556
MT-TE
mitochondrially encoded tRNA-Glu (GAA/G) [...
4576
4576
MT-TT
mitochondrially encoded tRNA-Thr (ACN) [So...
4720
4720
NDUFS2
NADH:ubiquinone oxidoreductase core subuni...
4724
4724
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 ...
50484
50484
RRM2B
ribonucleotide reductase regulatory TP53 i...
51241
51241
COX16
cytochrome c oxidase assembly factor COX16...
5160
5160
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 ...
55687
55687
TRMU
tRNA mitochondrial 2-thiouridylase [Source...
617
617
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reduc...
790955
790955
UQCC3
ubiquinol-cytochrome c reductase complex a...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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