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Human Gene Set: HP_URIC_ACID_NEPHROLITHIASIS
Standard name
HP_URIC_ACID_NEPHROLITHIASIS
Systematic name
M43258
Brief description
Uric acid nephrolithiasis
Full description or abstract
The presence of uric acid-containing calculi (stones) in the kidneys. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0000791
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0000791
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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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 13 genes
Gene families
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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
116085
116085
SLC22A12
solute carrier family 22 member 12 [Source...
23193
23193
GANAB
glucosidase II alpha subunit [Source:HGNC ...
29880
29880
ALG5
ALG5 dolichyl-phosphate beta-glucosyltrans...
3251
3251
HPRT1
hypoxanthine phosphoribosyltransferase 1 [...
353
353
APRT
adenine phosphoribosyltransferase [Source:...
51726
51726
DNAJB11
DnaJ heat shock protein family (Hsp40) mem...
5310
5310
PKD1
polycystin 1, transient receptor potential...
5311
5311
PKD2
polycystin 2, transient receptor potential...
5631
5631
PRPS1
phosphoribosyl pyrophosphate synthetase 1 ...
56606
56606
SLC2A9
solute carrier family 2 member 9 [Source:H...
79796
79796
ALG9
ALG9 alpha-1,2-mannosyltransferase [Source...
80114
80114
BICC1
BicC family RNA binding protein 1 [Source:...
9742
9742
IFT140
intraflagellar transport 140 [Source:HGNC ...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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