TY - JOUR
T1 - The Organ-Disease Annotations (ODiseA) Database of Hereditary Diseases and Inflicted Tissues
AU - Hekselman, Idan
AU - Kerber, Lior
AU - Ziv, Maya
AU - Gruber, Gil
AU - Yeger-Lotem, Esti
N1 - Funding Information:
This study was funded by the Israel Science Foundation [ 317/19 to E.Y.-L].
Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2022/6/15
Y1 - 2022/6/15
N2 - 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.
AB - 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.
KW - clinical manifestation
KW - data integration
KW - hereditary diseases
KW - pathogenicity
KW - tissue-specificity
UR - http://www.scopus.com/inward/record.url?scp=85130310784&partnerID=8YFLogxK
U2 - 10.1016/j.jmb.2022.167619
DO - 10.1016/j.jmb.2022.167619
M3 - Article
C2 - 35504357
SN - 0022-2836
VL - 434
JO - Journal of Molecular Biology
JF - Journal of Molecular Biology
IS - 11
M1 - 167619
ER -