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Human Gene Set: HP_APPENDICULAR_HYPOTONIA
Standard name
HP_APPENDICULAR_HYPOTONIA
Systematic name
M41446
Brief description
Appendicular hypotonia
Full description or abstract
Muscular hypotonia of one or more limbs. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012389
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012389
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
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grp
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gmt
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xml
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json
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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 16 genes
Gene families
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Categorize
these 16 genes by gene family
Show members
(
show
16 source identifiers mapped to 16 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10463
10463
SLC30A9
solute carrier family 30 member 9 [Source:H...
203190
203190
LGI3
leucine rich repeat LGI family member 3 [So...
23219
23219
FBXO28
F-box protein 28 [Source:HGNC Symbol;Acc:HG...
25929
25929
GEMIN5
gem nuclear organelle associated protein 5 ...
2629
2629
GBA1
glucosylceramidase beta 1 [Source:HGNC Symb...
285175
285175
UNC80
unc-80 homolog, NALCN channel complex subun...
375387
375387
NRROS
negative regulator of reactive oxygen speci...
5393
5393
EXOSC9
exosome component 9 [Source:HGNC Symbol;Acc...
55280
55280
CWF19L1
CWF19 like cell cycle control factor 1 [Sou...
5631
5631
PRPS1
phosphoribosyl pyrophosphate synthetase 1 [...
63908
63908
NAPB
NSF attachment protein beta [Source:HGNC Sy...
775
775
CACNA1C
calcium voltage-gated channel subunit alpha...
79158
79158
GNPTAB
N-acetylglucosamine-1-phosphate transferase...
8504
8504
PEX3
peroxisomal biogenesis factor 3 [Source:HGN...
9570
9570
GOSR2
golgi SNAP receptor complex member 2 [Sourc...
96459
96459
FNIP1
folliculin interacting protein 1 [Source:HG...
Version history
2023.1.Hs: Updated to HPO Release 2023-01-27.
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