Load gene2phenotype from EBI

[andrewsu]

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.

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

no explicit license, but if we ask I bet they would consent to loading to wikidata

Data download columns:

 1  "gene symbol"
 2  "gene mim"
 3  "disease name"
 4  "disease mim"
 5  "DDD category"
 6  "allelic requirement"
 7  "mutation consequence"
 8  phenotypes
 9  "organ specificity list"
10  pmids
11  panel
12  "prev symbols"
13  "hgnc id"
14  "gene disease pair entry date"

note that "phenotype" is actually diseases in MIM...