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Human Gene Set: HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM
Standard name
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM
Systematic name
M35299
Brief description
Abnormality of the musculature of the upper arm
Full description or abstract
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0001457
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0001457
Filtered by similarity
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1 similar ontology term(s) from the external resource)
External ID
External Name
HP:0008948
Proximal upper limb amyotrophy
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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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 14 genes
Gene families
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these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1785
1785
DNM2
dynamin 2 [Source:HGNC Symbol;Acc:HGNC:2974]
2010
2010
EMD
emerin [Source:HGNC Symbol;Acc:HGNC:3331]
2273
2273
FHL1
four and a half LIM domains 1 [Source:HGNC Sy...
22880
22880
MORC2
MORC family CW-type zinc finger 2 [Source:HGN...
23224
23224
SYNE2
spectrin repeat containing nuclear envelope p...
23345
23345
SYNE1
spectrin repeat containing nuclear envelope p...
4000
4000
LMNA
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
4010
4010
LMX1B
LIM homeobox transcription factor 1 beta [Sou...
59341
59341
TRPV4
transient receptor potential cation channel s...
64419
64419
MTMR14
myotubularin related protein 14 [Source:HGNC ...
6444
6444
SGCD
sarcoglycan delta [Source:HGNC Symbol;Acc:HGN...
79188
79188
TMEM43
transmembrane protein 43 [Source:HGNC Symbol;...
8557
8557
TCAP
titin-cap [Source:HGNC Symbol;Acc:HGNC:11610]
9987
9987
HNRNPDL
heterogeneous nuclear ribonucleoprotein D lik...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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