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Updated: Sep 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
DisPhaseDB: An integrative database of diseases related variations in liquid-liquid phase separation proteins
Alvaro M Navarro1, Fernando Orti1, Elizabeth Martínez-Pérez1
1Fundación Instituto Leloir. Av. Patricias Argentinas 435, C1405BWE Buenos Aires, Argentina.
Motivation:
Proteins involved in liquid-liquid phase separation (LLPS) and membraneless organelles (MLOs) are recognized to be decisive for many biological processes and also responsible for several diseases. The recent explosion of research in the area still lacks tools for the analysis and data integration among different repositories. Currently, there is not a comprehensive and dedicated database that collects all disease-related variations in combination with the protein location, biological role in the MLO, and all the metadata available for each protein and disease. Disease-related protein variants and additional features are dispersed and the user has to navigate many databases, with a different focus, formats, and often not user friendly.
Results:
We present DisPhaseDB, a database dedicated to disease-related variants of liquid-liquid phase separation proteins. It integrates 10 databases, contains 5,741 proteins, 1,660,059 variants, and 4,051 disease terms. It also offers intuitive navigation and an informative display. It constitutes a pivotal starting point for further analysis, encouraging the development of new computational tools.The database is freely available at http://disphasedb.leloir.org.ar.

