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Human Gene Set: HP_ACANTHOCYTOSIS
Standard name
HP_ACANTHOCYTOSIS
Systematic name
M35524
Brief description
Acanthocytosis
Full description or abstract
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001927
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001927
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
126410
126410
CYP4F22
cytochrome P450 family 4 subfamily F member...
1861
1861
TOR1A
torsin family 1 member A [Source:HGNC Symbo...
23230
23230
VPS13A
vacuolar protein sorting 13 homolog A [Sour...
2623
2623
GATA1
GATA binding protein 1 [Source:HGNC Symbol;...
338
338
APOB
apolipoprotein B [Source:HGNC Symbol;Acc:HG...
3783
3783
KCNN4
potassium calcium-activated channel subfami...
4547
4547
MTTP
microsomal triglyceride transfer protein [S...
51128
51128
SAR1B
secretion associated Ras related GTPase 1B ...
6710
6710
SPTB
spectrin beta, erythrocytic [Source:HGNC Sy...
7504
7504
XK
X-linked Kx blood group antigen, Kell and V...
790
790
CAD
carbamoyl-phosphate synthetase 2, aspartate...
80025
80025
PANK2
pantothenate kinase 2 [Source:HGNC Symbol;A...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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