Evidence finder gene level

This table provides links to genetic databases for browsing gene-disease validity evidence.

⚡ Click to here return to gene-disease validity curations by ClinGen's GCEP.

Gene count note: Genes were derived from BioMart Ensembl release 105 GRCh37.p13 for 66231 human genes for the identifiers UniProtKB Gene Name symbol and HGNC ID. Entries were retained where both identifiers present; 23646, and duplicates were removed; 20963. This gene set was merged with ClinGen gene-disease data and ClinGen Curation Activity Summary Report (1529 and 1977, respectively with an overlap of 2053). Some entries had multiple disease/phenotype data which were retained as individual rows; 21695 total for 20541 unique gene symbols. A small amount of data cleaning was applied to reduce size by pruning unreliable gene data to 20576 entries for 19435 unique gene symbols. Custom queries were generated for every gene to link to reference databases.