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Human Gene Set: HP_ABNORMALITY_OF_PINEAL_PHYSIOLOGY
Standard name
HP_ABNORMALITY_OF_PINEAL_PHYSIOLOGY
Systematic name
M49964
Brief description
Abnormality of pineal physiology
Full description or abstract
A functional abnormality of the pineal gland. [HPO_CONTRIBUTOR:UToronto_htrang]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012688
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012688
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 9 genes
Gene families
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Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10522
10522
DEAF1
DEAF1 transcription factor [Source:HGNC Symbol...
10743
10743
RAI1
retinoic acid induced 1 [Source:HGNC Symbol;Ac...
23096
23096
IQSEC2
IQ motif and Sec7 domain ArfGEF 2 [Source:HGNC...
2314
2314
FLII
FLII actin remodeling protein [Source:HGNC Sym...
5205
5205
ATP8B1
ATPase phospholipid transporting 8B1 [Source:H...
5244
5244
ABCB4
ATP binding cassette subfamily B member 4 [Sou...
5621
5621
PRNP
prion protein (Kanno blood group) [Source:HGNC...
8647
8647
ABCB11
ATP binding cassette subfamily B member 11 [So...
9971
9971
NR1H4
nuclear receptor subfamily 1 group H member 4 ...
Version history
2025.1.Hs: Updated to HPO Release 2025-05-06.
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