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Human Gene Set: HP_ELLIPTOCYTOSIS
Standard name
HP_ELLIPTOCYTOSIS
Systematic name
M36537
Brief description
Elliptocytosis
Full description or abstract
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. [https://orcid.org/0000-0002-0736-9199, PMID:16304353, PMID:21250106]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0004445
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0004445
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
2035
2035
EPB41
erythrocyte membrane protein band 4.1 [Sour...
2182
2182
ACSL4
acyl-CoA synthetase long chain family membe...
23630
23630
KCNE5
potassium voltage-gated channel subfamily E...
2623
2623
GATA1
GATA binding protein 1 [Source:HGNC Symbol;...
2995
2995
GYPC
glycophorin C (Gerbich blood group) [Source...
374354
374354
NHLRC2
NHL repeat containing 2 [Source:HGNC Symbol...
51095
51095
TRNT1
tRNA nucleotidyl transferase 1 [Source:HGNC...
6521
6521
SLC4A1
solute carrier family 4 member 1 (Diego blo...
6708
6708
SPTA1
spectrin alpha, erythrocytic 1 [Source:HGNC...
6710
6710
SPTB
spectrin beta, erythrocytic [Source:HGNC Sy...
760
760
CA2
carbonic anhydrase 2 [Source:HGNC Symbol;Ac...
9949
9949
AMMECR1
AMMECR nuclear protein 1 [Source:HGNC Symbo...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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