Gene2phenotype

Gene2Phenotype (infores:gene2phenotype)

Status: released

Knowledge Level: knowledge_assertion

Agent Type: manual_agent

Description: G2P is a publicly-accessible online system designed to facilitate development, validation, curation and distribution of large-scale, evidence-based datasets for diagnostic variant filtering. Each entry associates an allelic requirement and mutational consequence at a defined locus with a disease entity, including assigned confidence levels and evidence links.Synonyms:

• G2P

Cross References:

• https://www.ebi.ac.uk/gene2phenotype
• https://www.ebi.ac.uk/gene2phenotype/about/project

Consumed by:

• infores:biothings-ebi-gene2phenotype