Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Genome Med. 2021 May 25;13(1):91. doi: 10.1186/s13073-021-00909-8.
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.
我们介绍 PhenCards(https://phencards.org),这是一个数据库和网络服务器,旨在成为与人类临床表型相关的先前不相关的生物医学知识的一站式资源。用户可以查询人类表型术语或临床记录。PhenCards 获取相关疾病/表型的患病率和共现、药物、程序、途径、文献、拨款和合作者数据。PhenCards 根据临床记录中的表型术语推荐最可能的遗传疾病和候选基因。PhenCards 方便了表型的探索,例如,哪些药物会导致或用于治疗患者的症状,哪些基因可能导致特定的症状,以及哪些合并症与表型共现。