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Human Gene Set: HP_MEDULLARY_NEPHROCALCINOSIS
Standard name
HP_MEDULLARY_NEPHROCALCINOSIS
Systematic name
M41450
Brief description
Medullary nephrocalcinosis
Full description or abstract
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). [https://orcid.org/0000-0001-5208-3432]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012408
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012408
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 12 genes
Gene families
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Categorize
these 12 genes by gene family
Show members
(
show
12 source identifiers mapped to 12 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10916
10916
MAGED2
MAGE family member D2 [Source:HGNC Symbol;A...
113179
113179
ADAT3
adenosine deaminase tRNA specific 3 [Source...
142680
142680
SLC34A3
solute carrier family 34 member 3 [Source:H...
1497
1497
CTNS
cystinosin, lysosomal cystine transporter [...
1591
1591
CYP24A1
cytochrome P450 family 24 subfamily A membe...
1861
1861
TOR1A
torsin family 1 member A [Source:HGNC Symbo...
368
368
ABCC6
ATP binding cassette subfamily C member 6 [...
5167
5167
ENPP1
ectonucleotide pyrophosphatase/phosphodiest...
5442
5442
POLRMT
RNA polymerase mitochondrial [Source:HGNC S...
6569
6569
SLC34A1
solute carrier family 34 member 1 [Source:H...
79989
79989
IFT56
intraflagellar transport 56 [Source:HGNC Sy...
8074
8074
FGF23
fibroblast growth factor 23 [Source:HGNC Sy...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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