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Human Gene Set: HP_CEREBELLAR_DENTATE_NUCLEUS_CALCIFICATION
Standard name
HP_CEREBELLAR_DENTATE_NUCLEUS_CALCIFICATION
Systematic name
M41259
Brief description
Cerebellar dentate nucleus calcification
Full description or abstract
Pathological deposition of calcium salts in the dentate nucleus of the cerebellum. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002461
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002461
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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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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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 7 genes
Gene families
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these 7 genes by gene family
Show members
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show
7 source identifiers mapped to 7 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1161
1161
ERCC8
ERCC excision repair 8, CSA ubiquitin liga...
2074
2074
ERCC6
ERCC excision repair 6, chromatin remodeli...
5155
5155
PDGFB
platelet derived growth factor subunit B [...
5159
5159
PDGFRB
platelet derived growth factor receptor be...
57462
57462
MYORG
myogenesis regulating glycosidase (putativ...
6575
6575
SLC20A2
solute carrier family 20 member 2 [Source:...
727676
727676
SNORD118
small nucleolar RNA, C/D box 118 [Source:H...
Version history
2024.1.Hs: Renamed from HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS. Updated to HPO Release 2024-04-26.
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