Input phenotype(s)

        ex) Telangiectasia, Intellectual disability, Seizures, Chorea, Headache

About

PubCaseFinder is a diagnosis assistant system for rare diseases based on phenotypic similarity.

Feature

PubCaseFinder utilizes disease-phenotype associations extracted from over one million case reports.

Merit

PubCaseFinder helps you find case reports which are similar to your input phenotypes.

Database

Phenotype-associations for 4,066 rare diseases are HERE.

Statistics

1M+ Case Reports
>> PubMed
1 Rare Diseases
>> List
1 Disease-Phenotype Associations
>> List
1 Disease-Gene Associations
>> List

Original Data Sources

  1. Orphadata: Free access data from Orphanet. © INSERM 1997. Available on http://www.orphadata.org. Data version (XML data version).

  2. Sebastian Köhler, Sandra C Doelken, Christopher J. Mungall, Sebastian Bauer, Helen V. Firth, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Nucl. Acids Res. (1 January 2014) 42 (D1): D966-D974 doi:10.1093/nar/gkt1026

  3. Wei CH et. al., PubTator: a Web-based text mining tool for assisting Biocuration, Nucleic acids research, 2013, 41 (W1): W518-W522. doi: 10.1093/nar/gkt44