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Human Gene Set: HP_ABNORMAL_PLATELET_GRANULES
Standard name
HP_ABNORMAL_PLATELET_GRANULES
Systematic name
M37946
Brief description
Abnormal platelet granules
Full description or abstract
An anomaly of alpha or dense granules or platelet lysosomes. [https://orcid.org/0000-0002-7744-1790, PMID:18041654]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0011883
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0011883
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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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 13 genes
Gene families
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Categorize
these 13 genes by gene family
Show members
(
show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10559
10559
SLC35A1
solute carrier family 35 member A1 [Source:HG...
11234
11234
HPS5
HPS5 biogenesis of lysosomal organelles compl...
1130
1130
LYST
lysosomal trafficking regulator [Source:HGNC ...
23218
23218
NBEAL2
neurobeachin like 2 [Source:HGNC Symbol;Acc:H...
2623
2623
GATA1
GATA binding protein 1 [Source:HGNC Symbol;Ac...
63915
63915
BLOC1S5
biogenesis of lysosomal organelles complex 1 ...
64376
64376
IKZF5
IKAROS family zinc finger 5 [Source:HGNC Symb...
79803
79803
HPS6
HPS6 biogenesis of lysosomal organelles compl...
8328
8328
GFI1B
growth factor independent 1B transcriptional ...
84343
84343
HPS3
HPS3 biogenesis of lysosomal organelles compl...
8546
8546
AP3B1
adaptor related protein complex 3 subunit bet...
861
861
RUNX1
RUNX family transcription factor 1 [Source:HG...
89781
89781
HPS4
HPS4 biogenesis of lysosomal organelles compl...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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