Article
Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.
Journal of molecular biology - 15 Sept 2026
Hunt Sarah E, Lemos Diana, Pericherla Seeta Ramaraju, Austine-Orimoloye Olanrewaju, Cibrian Uhalte Elena, Yates T Michael, Ansari Morad, Thompson Louise, Foreman Julia, Simpson T Ian, Ware James S, Wright Caroline F, Freeberg Mallory A, Firth Helen V
Abstract excerpt
To facilitate both disease research and personalised medicine, there is an urgent need for accessible, structured data models describing the molecular basis of genetically determined disease. Gene2Phenotype is a database of expert-curated monogenic gene-disease associations, which was established in 2012 to enable efficient prioritisation of likely diagnostic genomic variants. Initially focused on developmental...
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