The mission of PubCaseFinder

The mission of PubCaseFinder is to make it possible to search for all cases of rare and genetic diseases on the planet. To achieve this mission, we provide various services for medical genetics specialists, genetic counselors, pediatricians, and other clinicians related to rare and genetic diseases.



This public database enables searching and utilizing the Virtual Gene Panels associated with 9,998 human diseases.


CaseSharing β

This service enables managing and sharing case information on rare and genetic diseases without user registration.



This service enables efficient searches for rare and genetic diseases, disease-causing genes, and case reports that are highly relevant to a patient's symptoms.



When you use PubCaseFinder in your publications, please cite:

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.

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., 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.

Special Thanks

Memberships & Collaborators


Manage case information


Search Virtual Gene Panels