PomBase chooses Monarch as source of human disease gene associations

Monarch Initiative
1 min readJun 25, 2024

--

PomBase is a comprehensive knowledgebase for the fission yeast Schizosaccharomyces pombe, an important model organism.

PomBase just announced that they have changed their major source of human disease associations to Mondo (mondo.monarchinitiative.org), the disease ontology created and maintained by the Monarch Initiative. This change has increased the number of fission yeast genes with disease associations from 1463 to 1551, and made the associations more accurate and up to date. It also enabled PomBase to add the qualifiers “causal” or “correlated with” (for multigenic disorders) to the disease association, available on the gene pages under “show details”.

PomBase’s new disease list can be browsed at https://www.pombase.org/term/MONDO:0700096

The fission yeast phenotype associations are also hosted in the Monarch knowledge graph, along with a range of other data from multiple knowledge sources. See information about what’s in the Monarch KG at https://monarch-initiative.github.io/monarch-ingest/Sources/. The PomBase announcement is at https://www.pombase.org/news#human-disease-association-changes-monarch.

The top level of the PomBase disease list at https://www.pombase.org/term/MONDO:0700096

--

--

Monarch Initiative

Semantically curating genotype-phenotype knowledge. Visit us at https://monarchinitiative.org/ #OpenScience #Collaborative #Data