The mission of PubCaseFinder

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

Service

DiseaseSearch

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

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CaseSharing RC

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

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PanelSearch

This web service enables searching and utilizing gene panels associated with 9,998 human diseases.

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Citation

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

CaseSharing

Manage case information

PanelSearch

Search Gene Panels