Rare Skin Disease Database

We collected data from public databases containing curated, inferred, literature-based information to create a database for connecting biomedical information. With curated disease genes, phenotypes, and phenotype genes as the direct molecular signatures of rare skin diseases, this work tries to link potential drugs to candidate rare skin disease targets with matched genes through disease-gene or disease-phenotype-gene relationships.RSDB contains 891 rare skin diseases, 28,077 genes, 9,732 phenotypes and 16,671 compounds with 16,411 disease-gene relationships, 15,793 disease-phenotype relationships, 12,184 disease-reference relationships, 638,151 gene-phenotype relationships, 17,636 gene-reference relationships and 61,282 references.Users can visit the RSDB homepage (https://rsdb.cmdm.tw) to explore the data for rare skin disease information.The RSDB is under the Attribution-NonCommercial-ShareAlike 4.0 international License(https://creativecommons.org/licenses/by-nc-sa/4.0/).

本研究从公开数据库中采集经人工审编、推断及文献溯源的信息，旨在构建用于关联生物医学信息的数据库。本研究以经审编的疾病基因、表型（phenotype）及表型基因作为罕见皮肤病的直接分子标记，尝试通过疾病-基因或疾病-表型-基因关联关系，将潜在药物与携带匹配基因的罕见皮肤病候选靶点进行关联。RSDB共收录891种罕见皮肤病、28077个基因、9732种表型及16671种化合物，涵盖16411条疾病-基因关联、15793条疾病-表型关联、12184条疾病-参考文献关联、638151条基因-表型关联、17636条基因-参考文献关联以及61282条参考文献。用户可访问RSDB主页（https://rsdb.cmdm.tw）探索罕见皮肤病相关数据信息。本数据库采用知识共享署名-非商业性使用-相同方式共享4.0国际许可协议（https://creativecommons.org/licenses/by-nc-sa/4.0/）进行授权。