Phen2Gene

Phen2Gene is a real-time phenotype-based gene prioritization tool from HPO IDs or clinical notes on patients.

HPO IDs
Patient notes

Human Phenotype Ontology (HPO) Term IDs

Please enter your focused HPO term IDs, in the format of HP:digits, e.g. HP:0000707, separated by semicolons, newlines, commas, or spaces.

Submit patient notes to Doc2Hpo

By inserting patient notes into this box, you acknowledge that:
1. The notes are deidentified
2. Phen2Gene and WGLab do not take any responsibility for the protection of PHI data
3. This site is not end-to-end encrypted and may use cookies and tracking analytics to understand user experience
4. This box submits these notes to Doc2Hpo, a Columbia University service that will translate the notes to HPO terms. In using Doc2Hpo, you consent to Columbia University's usage of cookies and similar technologies, in accordance with the Columbia University Website Cookie Notice.

Please enter a patient description here.

Weight Model

References

Zhao M., Havrilla J. M., Fang L., Chen Y., Peng J., Liu C., Wu C., Sarmady M., Botas P., Isla J., Lyon G., Weng C., Wang K. (2020). Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases. NAR Genomics and Bioinformatics, 2(2), lqaa032. doi:10.1093/nargab/lqaa032 Liu C., Peres Kury F. S., Li Z., Ta C., Wang K., & Weng C. (2019). Doc2Hpo: a web application for efficient and accurate HPO concept curation. Nucleic Acids Research, 47(W1), W566–W570. doi:10.1093/nar/gkz386

emoji_peoplePhen2Gene

personHuman Phenotype Ontology (HPO) Term IDs

assignmentSubmit patient notes to Doc2Hpo

fitness_centerWeight Model

References

Phen2Gene

Human Phenotype Ontology (HPO) Term IDs

Submit patient notes to Doc2Hpo

Weight Model