Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Be'er Sheva, Israel. Electronic address: https://twitter.com/IdanXL.
Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Be'er Sheva, Israel.
J Mol Biol. 2022 Jun 15;434(11):167619. doi: 10.1016/j.jmb.2022.167619. Epub 2022 Apr 30.
Hereditary diseases tend to manifest clinically in few selected tissues. Knowledge of those tissues is important for better understanding of disease mechanisms, which often remain elusive. However, information on the tissues inflicted by each disease is not easily obtainable. Well-established resources, such as the Online Mendelian Inheritance in Man (OMIM) database and Human Phenotype Ontology (HPO), report on a spectrum of disease manifestations, yet do not highlight the main inflicted tissues. The Organ-Disease Annotations (ODiseA) database contains 4,357 thoroughly-curated annotations for 2,181 hereditary diseases and 45 inflicted tissues. Additionally, ODiseA reports 692 annotations of 635 diseases and the pathogenic tissues where they emerge. ODiseA can be queried by disease, disease gene, or inflicted tissue. Owing to its expansive, high-quality annotations, ODiseA serves as a valuable and unique tool for biomedical and computational researchers studying genotype-phenotype relationships of hereditary diseases. ODiseA is available at https://netbio.bgu.ac.il/odisea.
遗传性疾病往往在少数特定组织中表现出临床症状。了解这些组织对于更好地理解疾病机制非常重要，而这些机制往往难以捉摸。然而，关于每种疾病所影响的组织的信息并不容易获得。像在线孟德尔遗传数据库 (OMIM) 和人类表型本体 (HPO) 这样成熟的资源报告了一系列疾病表现，但没有突出主要受影响的组织。器官-疾病注释 (ODiseA) 数据库包含 4357 个经过精心整理的遗传性疾病和 45 个受影响组织的注释。此外，ODiseA 报告了 635 种疾病中的 692 个注释和这些疾病发生的致病组织。ODiseA 可以通过疾病、疾病基因或受影响的组织进行查询。由于其广泛而高质量的注释，ODiseA 是研究遗传性疾病基因型-表型关系的生物医学和计算研究人员的宝贵而独特的工具。ODiseA 可在 https://netbio.bgu.ac.il/odisea 上获得。
