Search System for Rare Genetic Diseases
Share cases,
put them to use.
Bring case management and sharing together.
Phenopackets-based international sharing is also supported.
From symptoms to
directly to disease candidates.
Enter multiple symptoms to see highly relevant diseases ranked.
Free-text input with automatic symptom extraction is also supported.
Providing the right information
for learning.
Use multiple systems for candidate-disease exploration and case study materials.
Used in courses at Erasmus MC, one of Europe’s largest medical centers.
From disease search to
real case reports.
Gain a deeper understanding of searched diseases through case reports.
Japanese and English case reports are supported.
From case sharing to
what comes next.
Find researchers with similar cases more easily, promote collaborative research,
and open up new possibilities for treatment development.
Narrow variants
with precision.
Enable rich filtering through gene panels.
Around 9,000 gene panels are available for search and retrieval.
Across languages,
to the same information.
Supports Japanese and English, helping extend information sharing to a broader community.
Requests for additional languages and translation feedback are welcome.
Keep case information
secure and close at hand.
Save case information locally and share only what is needed, when it is needed.
Maintain security while expanding how case information can be used.
Mission
Our long-term mission is to make “every case worldwide” of rare and genetic diseases searchable. To achieve this mission, we are building a system that enables clinical geneticists and other healthcare professionals to access the information they need quickly and accurately.
Service
DiseaseSearch
This web service efficiently searches for rare and hereditary diseases and their causative genes that are highly relevant to a patient’s symptoms.
CaseSharing
This web service allows users to efficiently, confidentially, and seamlessly manage and share case information on rare and genetic diseases without registration.
PanelSearch
This web service allows users to search for and download gene panel data associated with approximately ten thousand rare and genetic diseases in humans.
Citation
" When you use PubCaseFinder in your publications, please cite: "
Shin, J., Fujiwara, T., Saitsu, H., & Yamaguchi, A. (2025). Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. BMC medical informatics and decision making, 25(Suppl 1), 59.
Fujiwara, T., Shin, J. M., & Yamaguchi, A. (2022). Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm. Human mutation, 10.1002/humu.24341. Advance online publication.
Yamaguchi, A., Shin, J. M., & Fujiwara, T. (2021, December). Gene Ranking based on Paths from Phenotypes to Genes on Knowledge Graph. In The 10th International Joint Conference on Knowledge Graphs (pp. 131-134).
Fujiwara, T., Yamamoto, Y., Kim, J. D., Buske, O., & Takagi, T. (2018). PubCaseFinder: A case-report-based, phenotype-driven differential-diagnosis system for rare diseases. The American Journal of Human Genetics, 103(3), 389-399.
Special Thanks
Memberships & Collaborators
