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Human Gene Set: HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT
Standard name
HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT
Systematic name
M38067
Brief description
Abnormal muscle glycogen content
Full description or abstract
Any anomaly in the amount of glycogen in muscle tissue. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0012269
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0012269
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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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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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 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
2027
2027
ENO3
enolase 3 [Source:HGNC Symbol;Acc:HGNC:3354]
2548
2548
GAA
alpha glucosidase [Source:HGNC Symbol;Acc:HGNC:...
2992
2992
GYG1
glycogenin 1 [Source:HGNC Symbol;Acc:HGNC:4699]
2997
2997
GYS1
glycogen synthase 1 [Source:HGNC Symbol;Acc:HGN...
4556
4556
MT-TE
mitochondrially encoded tRNA-Glu (GAA/G) [Sourc...
5213
5213
PFKM
phosphofructokinase, muscle [Source:HGNC Symbol...
5255
5255
PHKA1
phosphorylase kinase regulatory subunit alpha 1...
5256
5256
PHKA2
phosphorylase kinase regulatory subunit alpha 2...
5257
5257
PHKB
phosphorylase kinase regulatory subunit beta [S...
5261
5261
PHKG2
phosphorylase kinase catalytic subunit gamma 2 ...
55154
55154
MSTO1
misato mitochondrial distribution and morpholog...
55687
55687
TRMU
tRNA mitochondrial 2-thiouridylase [Source:HGNC...
5837
5837
PYGM
glycogen phosphorylase, muscle associated [Sour...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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