PhenCards: a data resource linking human phenotype information to biomedical knowledge

Genome Medicine

Chunhua Weng¹  Cong Liu¹  James M. Havrilla²  Xiangchen Dong²  Kai Wang³ 

[1] Department of Biomedical Informatics, Columbia University Irving Medical Center, 10032, New York, NY, USA;Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, 19104, Philadelphia, PA, USA;Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children’s Hospital of Philadelphia, 19104, Philadelphia, PA, USA;Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 19104, Philadelphia, PA, USA;

关键词: Disease;    Phenotype;    Genetics;    Natural Language Processing;    Mendelian diseases;    Rare disease;    Common disease;    Drug targets;    Collaborative support;   

DOI  :  10.1186/s13073-021-00909-8

来源: Springer

【 摘 要 】

We present PhenCards (https://phencards.org), a database and web server intended as a one-stop shop for previously disconnected biomedical knowledge related to human clinical phenotypes. Users can query human phenotype terms or clinical notes. PhenCards obtains relevant disease/phenotype prevalence and co-occurrence, drug, procedural, pathway, literature, grant, and collaborator data. PhenCards recommends the most probable genetic diseases and candidate genes based on phenotype terms from clinical notes. PhenCards facilitates exploration of phenotype, e.g., which drugs cause or are prescribed for patient symptoms, which genes likely cause specific symptoms, and which comorbidities co-occur with phenotypes.

【 授权许可】

CC BY