Human Gene Set: HP_PELVIC_GIRDLE_AMYOTROPHY


Standard name HP_PELVIC_GIRDLE_AMYOTROPHY
Systematic name M46142
Brief description Pelvic girdle amyotrophy
Full description or abstract Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0008946
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0008946
Filtered by similarity ?
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 | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
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 5 genes
Gene families ? Categorize these 5 genes by gene family
Show members (show 5 source identifiers mapped to 5 genes)
Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

See MSigDB license terms here. Please note that certain gene sets have special access terms.