HP_MUSCLE_WEAKNESS
Human Gene Set: HP_MUSCLE_WEAKNESS
| Standard name | HP_MUSCLE_WEAKNESS | |
|---|---|---|
| Systematic name | M35231 | |
| Brief description | Muscle weakness | |
| Full description or abstract | Reduced strength of muscles. [https://www.carmenthyssenmalaga.org PMID:15832536] | |
| Collection | C5: Ontology HPO: Human Phenotype Ontology | |
| Source publication | ||
| Exact source | HP:0001324 | |
| Related gene sets | ||
| External links | [https://www.carmenthyssenmalaga.org [](https://www.carmenthyssenmalaga.org by similarity [?](https://www.carmenthyssenmalaga.org 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](https://www.carmenthyssenmalaga.org | [gmt](https://www.carmenthyssenmalaga.org | [xml](https://www.carmenthyssenmalaga.org | [json](https://www.carmenthyssenmalaga.org | [TSV metadata](https://www.carmenthyssenmalaga.org overlaps [?](https://www.carmenthyssenmalaga.org collections to investigate for overlap with this gene set)](javascript:toggleWithShowHide('overlapCollections', 'showHideOverlapCollections')) [H: Hallmark](https://www.carmenthyssenmalaga.org [C1: Positional](https://www.carmenthyssenmalaga.org [C2: Curated](https://www.carmenthyssenmalaga.org [CGP: Chemical and Genetic Perturbations](https://www.carmenthyssenmalaga.org [CP: Canonical Pathways](https://www.carmenthyssenmalaga.org [CP:BIOCARTA: BioCarta Pathways](https://www.carmenthyssenmalaga.org [CP:KEGG_MEDICUS: KEGG Medicus Pathways](https://www.carmenthyssenmalaga.org [CP:PID: PID Pathways](https://www.carmenthyssenmalaga.org [CP:REACTOME: Reactome Pathways](https://www.carmenthyssenmalaga.org [CP:WIKIPATHWAYS: WikiPathways](https://www.carmenthyssenmalaga.org [CP:KEGG_LEGACY: KEGG Legacy Pathways](https://www.carmenthyssenmalaga.org [C3: Regulatory Target](https://www.carmenthyssenmalaga.org [MIR: microRNA Targets](https://www.carmenthyssenmalaga.org [MIR:MIRDB: miRDB](https://www.carmenthyssenmalaga.org [MIR:MIR_LEGACY: MIR_Legacy](https://www.carmenthyssenmalaga.org [TFT: Transcription Factor Targets](https://www.carmenthyssenmalaga.org [TFT:GTRD: GTRD](https://www.carmenthyssenmalaga.org [TFT:TFT_LEGACY: TFT_Legacy](https://www.carmenthyssenmalaga.org [C4: Computational](https://www.carmenthyssenmalaga.org [3CA: Curated Cancer Cell Atlas gene sets](https://www.carmenthyssenmalaga.org [CGN: Cancer Gene Neighborhoods](https://www.carmenthyssenmalaga.org [CM: Cancer Modules](https://www.carmenthyssenmalaga.org [C5: Ontology](https://www.carmenthyssenmalaga.org [GO: Gene Ontology](https://www.carmenthyssenmalaga.org [GO:BP: GO Biological Process](https://www.carmenthyssenmalaga.org [GO:CC: GO Cellular Component](https://www.carmenthyssenmalaga.org [GO:MF: GO Molecular Function](https://www.carmenthyssenmalaga.org [HPO: Human Phenotype Ontology](https://www.carmenthyssenmalaga.org [C6: Oncogenic Signature](https://www.carmenthyssenmalaga.org [C7: Immunologic Signature](https://www.carmenthyssenmalaga.org [IMMUNESIGDB: ImmuneSigDB](https://www.carmenthyssenmalaga.org [VAX: HIPC Vaccine Response](https://www.carmenthyssenmalaga.org [C8: Cell Type Signature](https://www.carmenthyssenmalaga.org [C9: Computational Perturbation Signature](https://www.carmenthyssenmalaga.org expression profiles [?](https://www.carmenthyssenmalaga.org interactive heatmaps (_Please note that clustering takes a few seconds_) [GTEx compendium](https://www.carmenthyssenmalaga.org [Human tissue compendium (Novartis)](https://www.carmenthyssenmalaga.org [Global Cancer Map (Broad Institute)](https://www.carmenthyssenmalaga.org [NCI-60 cell lines (National Cancer Institute)](https://www.carmenthyssenmalaga.org Legacy heatmaps (PNG) [GTEx compendium](https://www.carmenthyssenmalaga.org [Human tissue compendium (Novartis)](https://www.carmenthyssenmalaga.org [Global Cancer Map (Broad Institute)](https://www.carmenthyssenmalaga.org [NCI-60 cell lines (National Cancer Institute)](https://www.carmenthyssenmalaga.org query | [Further investigate](https://www.carmenthyssenmalaga.org these 1089 genes |
| Gene families [?](https://www.carmenthyssenmalaga.org these 1089 genes by gene family | ||
| Show members | [(show 1091 source identifiers mapped to 1089 genes)](javascript:toggleWithShowHide('geneListing', 'showHideMembers')) | Source Id | NCBI(Entrez) Gene Id | Gene Symbol | Gene Description | | --- | --- | --- | --- | | 10008 | [10008](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [KCNE3](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | potassium voltage-gated channel su... | | 100131801 | [100131801](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [PET100](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | PET100 cytochrome c oxidase chaper... | | 100134444 | [100134444](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [KCNJ18](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | potassium inwardly rectifying chan... | | 10020 | [10020](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [GNE](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | glucosamine (UDP-N-acetyl)-2-epime... | | 100288687 | [100288687](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [DUX4](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | double homeobox 4 [Source:HGNC Sym... | | 10049 | [10049](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [DNAJB6](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | DnaJ heat shock protein family (Hs... | | 10054 | [10054](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [UBA2](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | ubiquitin like modifier activating... | | 10058 | [10058](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [ABCB6](https://www.carmenthyssenmalaga.org "view Ensembl entry for gene symbol") | ATP binding cassette subfamily B m... | | 10073 | [10073](https://www.carmenthyssenmalaga.org "view NCBI entry for Entrez gene id") | [SNUPN](https://www.carmenthyssenmalaga.org
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