Gene2Phenotype

Other names: G2P

G2P is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering. Each G2P entry associates an allelic requirement and a mutational consequence at a defined locus with a disease entity. A confidence level and evidence link are assigned to each entry.

Webpage:
https://www.ebi.ac.uk/gene2phenotype

Licence:
Name: EBI - specific. No restrictions except when presenting data from other sources.
URL: https://www.ebi.ac.uk/gene2phenotype/disclaimer

Publications:

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