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Human Gene Set: HP_ABNORMAL_PINEAL_MORPHOLOGY
Standard name
HP_ABNORMAL_PINEAL_MORPHOLOGY
Systematic name
M41462
Brief description
Abnormal pineal morphology
Full description or abstract
A structural abnormality of the pineal gland. [HPO_CONTRIBUTOR:UToronto_htrang]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012681
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012681
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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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 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
11023
11023
VAX1
ventral anterior homeobox 1 [Source:HGNC Sym...
1736
1736
DKC1
dyskerin pseudouridine synthase 1 [Source:HG...
2186
2186
BPTF
bromodomain PHD finger transcription factor ...
23394
23394
ADNP
activity dependent neuroprotector homeobox [...
2590
2590
GALNT2
polypeptide N-acetylgalactosaminyltransferas...
284058
284058
KANSL1
KAT8 regulatory NSL complex subunit 1 [Sourc...
3643
3643
INSR
insulin receptor [Source:HGNC Symbol;Acc:HGN...
3845
3845
KRAS
KRAS proto-oncogene, GTPase [Source:HGNC Sym...
4841
4841
NONO
non-POU domain containing octamer binding [S...
57104
57104
PNPLA2
patatin like phospholipase domain containing...
5718
5718
PSMD12
proteasome 26S subunit, non-ATPase 12 [Sourc...
80232
80232
WDR26
WD repeat domain 26 [Source:HGNC Symbol;Acc:...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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