Human Gene Set: HP_NEURAL_TUBE_DEFECT


Standard name HP_NEURAL_TUBE_DEFECT
Systematic name M47330
Brief description Neural tube defect
Full description or abstract A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [https://orcid.org/0000-0002-0736-9199, PMID:19808787]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0045005
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0045005
Filtered by similarity ? (show 1 similar ontology term(s) from the external resource)
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 310 genes
Gene families ? Categorize these 310 genes by gene family
Show members (show 310 source identifiers mapped to 310 genes)
Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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