The Organ-Disease Annotations (ODiseA) Database of Hereditary Diseases and Inflicted Tissues

Idan Hekselman, Lior Kerber, Maya Ziv, Gil Gruber, Esti Yeger-Lotem

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageAmerican English
Article number167619
JournalJournal of Molecular Biology
Volume434
Issue number11
DOIs
StatePublished - 15 Jun 2022

Keywords

  • clinical manifestation
  • data integration
  • hereditary diseases
  • pathogenicity
  • tissue-specificity

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Structural Biology
  • Molecular Biology

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