EBI Gene2Phenotype

Homepage Link: https://www.ebi.ac.uk/gene2phenotype

Description: 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.

Example record: From https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=916, Gene CRYBA1 is associated with Disease "CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES" according to https://pubmed.ncbi.nlm.nih.gov/14598164/.

Additional Links: https://www.ebi.ac.uk/gene2phenotype/about