Description Usage Format Source Examples
The Orphanet phenotype to Orphanet gene map and the Orphanet phenotype to phecode/HPO map are provided by Lisa Bastarache.
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a list of: 1. table: a data.frame with column gene (with Ensembl ID, e.g. ENSG00000084754) , column HPO (HPO term in the format HP:0000512), column phecode (e.g. 346), column EFO (e.g. EFO:0004207); 2. script_info: meta information on how data set is generated.
Source code generating this silver standard dataset
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