Human Gene Set: HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT


Standard name HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT
Systematic name M41420
Brief description Muscular ventricular septal defect
Full description or abstract The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011623
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011623
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 26 genes
Gene families ? Categorize these 26 genes by gene family
Show members (show 26 source identifiers mapped to 26 genes)
Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


Creative Commons Attribution 4.0 International License (CC-BY-4.0)

The contents of this gene set are protected by copyright (c) 2004-2026 Broad Institute, Inc., Massachusetts Institute of Technology, and Regents of the University of California, subject to the terms and conditions of the Creative Commons Attribution 4.0 International License.

See the full MSigDB license terms here.