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_HYPERCHLOREMIC_ACIDOSIS
Standard name
HP_HYPERCHLOREMIC_ACIDOSIS
Systematic name
M35572
Brief description
Hyperchloremic acidosis
Full description or abstract
Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. [PMID:29493965]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001995
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001995
Filtered by similarity
?
(
show
1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0004918
Hyperchloremic metabolic acidosis
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 13 genes
Gene families
?
Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
137682
137682
NDUFAF6
NADH:ubiquinone oxidoreductase complex asse...
1497
1497
CTNS
cystinosin, lysosomal cystine transporter [...
1962
1962
EHHADH
enoyl-CoA hydratase and 3-hydroxyacyl CoA d...
2592
2592
GALT
galactose-1-phosphate uridylyltransferase [...
26249
26249
KLHL3
kelch like family member 3 [Source:HGNC Sym...
2628
2628
GATM
glycine amidinotransferase [Source:HGNC Sym...
50674
50674
NEUROG3
neurogenin 3 [Source:HGNC Symbol;Acc:HGNC:1...
65125
65125
WNK1
WNK lysine deficient protein kinase 1 [Sour...
6521
6521
SLC4A1
solute carrier family 4 member 1 (Diego blo...
65266
65266
WNK4
WNK lysine deficient protein kinase 4 [Sour...
6569
6569
SLC34A1
solute carrier family 34 member 1 [Source:H...
8452
8452
CUL3
cullin 3 [Source:HGNC Symbol;Acc:HGNC:2553]
8671
8671
SLC4A4
solute carrier family 4 member 4 [Source:HG...
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.