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Human Gene Set: HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA
Standard name
HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA
Systematic name
M36985
Brief description
Generalized cerebral atrophy/hypoplasia
Full description or abstract
Generalized atrophy or hypoplasia of the cerebrum. [https://orcid.org/0009-0006-4530-3154]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0007058
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0007058
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 11 genes
Gene families
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Categorize
these 11 genes by gene family
Show members
(
show
11 source identifiers mapped to 11 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
112755
112755
STX1B
syntaxin 1B [Source:HGNC Symbol;Acc:HGNC:18539]
2563
2563
GABRD
gamma-aminobutyric acid type A receptor subu...
2566
2566
GABRG2
gamma-aminobutyric acid type A receptor subu...
348980
348980
HCN1
hyperpolarization activated cyclic nucleotid...
6323
6323
SCN1A
sodium voltage-gated channel alpha subunit 1...
6324
6324
SCN1B
sodium voltage-gated channel beta subunit 1 ...
6326
6326
SCN2A
sodium voltage-gated channel alpha subunit 2...
6335
6335
SCN9A
sodium voltage-gated channel alpha subunit 9...
6908
6908
TBP
TATA-box binding protein [Source:HGNC Symbol...
8398
8398
PLA2G6
phospholipase A2 group VI [Source:HGNC Symbo...
84059
84059
ADGRV1
adhesion G protein-coupled receptor V1 [Sour...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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