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Human Gene Set: HP_ABNORMAL_SARCOMERE_MORPHOLOGY
Standard name
HP_ABNORMAL_SARCOMERE_MORPHOLOGY
Systematic name
M38225
Brief description
Abnormal sarcomere morphology
Full description or abstract
Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0020201
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0020201
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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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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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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these 13 genes by gene family
Show members
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show
13 source identifiers mapped to 13 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
100996717
100996717
NOTCH2NLC
notch 2 N-terminal like C [Source:H...
146862
146862
UNC45B
unc-45 myosin chaperone B [Source:H...
1674
1674
DES
desmin [Source:HGNC Symbol;Acc:HGNC...
203859
203859
ANO5
anoctamin 5 [Source:HGNC Symbol;Acc...
339855
339855
KY
kyphoscoliosis peptidase [Source:HG...
3908
3908
LAMA2
laminin subunit alpha 2 [Source:HGN...
442721
442721
LMOD2
leiomodin 2 [Source:HGNC Symbol;Acc...
6261
6261
RYR1
ryanodine receptor 1 [Source:HGNC S...
7138
7138
TNNT1
troponin T1, slow skeletal type [So...
7273
7273
TTN
titin [Source:HGNC Symbol;Acc:HGNC:...
8087
8087
FXR1
FMR1 autosomal homolog 1 [Source:HG...
88
88
ACTN2
actinin alpha 2 [Source:HGNC Symbol...
8878
8878
SQSTM1
sequestosome 1 [Source:HGNC Symbol;...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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