Published April 21, 2023
| Version v1
Dataset
Open
ClinPrior supplemental files
Authors/Creators
Description
A vcf file with 66,800 SNVs or small INDELs pathogenic variants present in 3,356 different disease-associated genes obtained from the ClinVar database (December 2019); and a txt file with the 439,379 HPO-geneID associations used in ClinPrior gene-prioritization tool obtained from OMIM, Orphanet and DisGeNET databases.