Input patient's phenotype(s)

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



PubCaseFinder is a diagnosis support system for rare diseases.

"For a set of patient's phenotypes, as input, PubCaseFinder suggests a ranked list of rare diseases based on phenotypic similarity."
 
 
 

Statistics

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

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. Mungall, Christopher J., et al. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic acids research 45.D1 (2016): D712-D722.

  4. 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

  5. HPO-Japanese alpha version