Index of /monthly_releases/2025/pombase-2025-02-01/human_disease_annotation
Name Last modified Size Description
Parent Directory -
human_disease_association.tsv 2025-02-01 01:00 161K
pombe_mondo_disease_slim_terms.tsv 2025-02-01 01:00 1.4K
This directory contains files related to the association of
S. pombe genes with human diseases, curated by PomBase.
The human_disease_association.tsv file lists the S. pombe genes with
human orthologs associated to human diseases and the Mondo identifiers
of the associated diseases.
Columns:
- gene systematic ID
- gene name
- Mondo disease ontology term ID (see https://mondo.monarchinitiative.org/)
- reference, can be a PB_REF ("PomBase reference") or a PubMed ID
- annotation date
PB_REFs are describedhere: https://www.pombase.org/documentation/pombase-references
The pombe_mondo_disease_slim_terms.tsv file lists the human disease slim
terms currently used in PomBase.
See: https://www.pombase.org/browse-curation/disease-slim
"slims" are subsets of an ontology that provide a broad overview of
annotation distribution. The disease slim set uses Mondo ontology terms
from the Monarch Initiative: https://mondo.monarchinitiative.org/
These files are part of PomBase release 2025-02-01
For use of this dataset please cite:
Kim Rutherford, Manuel Lera-RamÃrez, Valerie Wood
PomBase: a Global Core Biodata Resource - growth, collaboration, and sustainability
Genetics, February 2024
https://doi.org/10.1093/genetics/iyae007
Please also cite The Monarch Initiative:
https://monarchinitiative.org/cite
and/or Mondo:
"Mondo: Unifying diseases for the world, by the world"
NA Vasilevsky et al.
https://doi.org/10.1101/2022.04.13.22273750