Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

doi:10.1093/database/baae031

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Article

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Database : the journal of biological databases and curation - 7 May 2024

Orlic-Milacic Marija, Rothfels Karen, Matthews Lisa, Wright Adam, Jassal Bijay, Shamovsky Veronica, Trinh Quang, Gillespie Marc E, Sevilla Cristoffer, Tiwari Krishna, Ragueneau Eliot, Gong Chuqiao, Stephan Ralf, May Bruce, Haw Robin, Weiser Joel, Beavers Deidre, Conley Patrick, Hermjakob Henning, Stein Lincoln D, D'Eustachio Peter, Wu Guanming

Abstract excerpt

Germline and somatic mutations can give rise to proteins with altered activity, including both gain and loss-of-function. The effects of these variants can be captured in disease-specific reactions and pathways that highlight the resulting changes to normal biology. A disease reaction is defined as an aberrant reaction in which a variant protein participates. A disease pathway is defined as a pathway that...

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PMID: 38713862
DOI: 10.1093/database/baae031
PMCID: PMC11184451

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