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PHENOCAUZ: Linking Human Symptoms, Drug Side Effects and Efficacy to Their Molecular Causes Using Mendelian Disease Biology

2026-03-30

Abstract excerpt

Human diseases and adverse drug reactions are ultimately recognized through clinical symptoms, yet the molecular determinants of most symptoms remain unknown. To address this key issue, we present PHENOCAUZ, a computational framework that links symptoms to their causative proteins by integrating Mendelian phenotype–gene relationships with molecular features of proteins. Starting from symptom annotations derived fr...

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Literature Corpus work: 2e4f399a-ec24-56f4-a2e7-e5f2fbb0578a
DOI: 10.64898/2026.03.26.714535

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