Search System for Rare Genetic Diseases
TIPS
You can automatically extract signs and symptoms from medical records by doc2hpo and obtain a ranked list of diseases based on these inputs.
Sharing Cases
PubCaseFinder will support the Phenopackets format, which is ideal for sharing phenotypic data.
TIPS
In the future, we plan to provide the capability to save more individual's medically relevant data in Phenopackets format.
TIPS
The PubCaseFinder API has been adopted by several patient repositories in the Matchmaker Exchangeproject.
TIPS
In a class at Erasmus Medical Center, one of the largest medical facilities in Europe, PubCaseFinder has been introduced and used for exercises.
TIPS
300,000 published case reports included in PubMed are searchable for each disease.
Finding Open-Sharing Cases
You can search about 19,000 open-sharing cases available on the Internet.
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By specifying phenotypes and genes, you can search for open-sharing cases and access their websites.
Filtering Variants
You can prioritize candidate disease-causing genes according to the phenotypic similarity.
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By specifying candidate disease-causing genes in Filter, you can get ranked lists of diseases, genes, and open-sharing case related to the input.
Multilingualization
PubCaseFinder supports English and Japanese. More languages will be supported in the future.
TIPS
Please let us know if you have a language you would like support for.
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In the future, we plan to provide a secure feature to manage a set of case records. Individual records can be managed locally by the user.
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
