Fig. 2

VarElect interface and direct mode example. a The user enters two types of input: gene symbol list and phenotype expression. A Symbolize button activates a process whereby correct symbols are assigned. The phenotype phrase undergoes automatic syntactic validation, whereby success is indicated by a green ✓ check mark. Example cases at top enable initial familiarization with the VarElect tool. “My Analyses” store previous analyses that may be accessed by the “Open” button. b Top, “identified” genes for which correct official symbols have been entered and are ready for analysis. Symbols may be removed at will from the input list using the X icon. Bottom, the “unidentified” tab displays cases which require symbol resolution. Suggested symbols may be selected from the drop down menu or alternate symbols may be searched for in GeneCards with the magnifying glass or entered using the edit icon. c Output results presented in two tabs for direct and indirect modes. Each result row displays a gene along with its basic information, such as the gene description, category and the phenotype relevance score, also indicated by the size and color of the bar. “Matched Phenotypes” and “Matched Phenotype Count” columns appear for multi-term search phrases. Results may be sorted by any of the table columns but are ranked by the relevance score by default. Gene symbols link to the relevant GeneCard, the orange icon to the variants section of the same gene and the yellow icon to a MalaCards search for the gene symbol. Entering strings within the filter text box searches for them within any of the result rows. The question marks in each column provide additional information. d An expanded row displays a”MiniCard” with snippets from various webcard sections, which place the exhibited evidence in context, highlighting the search words that received hits for one of the genes. External links enable further scrutiny of the information in the data sources from which it was received