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

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

doi:10.1016/j.jmb.2022.167619

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

J Mol Biol. 2022 Jun 15;434(11):167619. doi: 10.1016/j.jmb.2022.167619. Epub 2022 Apr 30.

Authors

Idan Hekselman¹, Lior Kerber², Maya Ziv², Gil Gruber², Esti Yeger-Lotem³

Affiliations

¹ Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Be'er Sheva, Israel. Electronic address: https://twitter.com/IdanXL.
² Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Be'er Sheva, Israel.
³ Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, Be'er Sheva, Israel; The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Be'er Sheva, Israel. Electronic address: estiyl@bgu.ac.il.

PMID: 35504357
DOI: 10.1016/j.jmb.2022.167619

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.

Keywords: clinical manifestation; data integration; hereditary diseases; pathogenicity; tissue-specificity.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Computational Biology*
Databases, Genetic*
Genetic Diseases, Inborn*
Humans
Organ Specificity
Phenotype