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Human Gene Set: HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA
Standard name
HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA
Systematic name
M35851
Brief description
Progressive spastic quadriplegia
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0002478
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0002478
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
133686
133686
NADK2
NAD kinase 2, mitochondrial [Source:HGNC S...
23400
23400
ATP13A2
ATPase cation transporting 13A2 [Source:HG...
2760
2760
GM2A
ganglioside GM2 activator [Source:HGNC Sym...
383
383
ARG1
arginase 1 [Source:HGNC Symbol;Acc:HGNC:663]
410
410
ARSA
arylsulfatase A [Source:HGNC Symbol;Acc:HG...
5048
5048
PAFAH1B1
platelet activating factor acetylhydrolase...
5354
5354
PLP1
proteolipid protein 1 [Source:HGNC Symbol;...
54
54
ACP5
acid phosphatase 5, tartrate resistant [So...
5660
5660
PSAP
prosaposin [Source:HGNC Symbol;Acc:HGNC:9498]
6711
6711
SPTBN1
spectrin beta, non-erythrocytic 1 [Source:...
79152
79152
FA2H
fatty acid 2-hydroxylase [Source:HGNC Symb...
9373
9373
PLAA
phospholipase A2 activating protein [Sourc...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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