GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Symptoms based rare genetic disorder prediction

This application analyzes clinical symptoms from GenTIGS to predict rare genetic disorders (RGDs) using a frequency-weighted scoring system. Each symptom contributes to a disorder's score based on its reported frequency (e.g., 'Always', 'Very frequent', 'Frequent', 'Occasional'). Disorders are ranked by cumulative scores, simulating a decision-tree-based diagnostic approach.

Instructions:
  • Step 1. Select one or more disorder categories to display associated symptoms from GenTIGS. All related symptoms will then appear in the box below on the left.
  • Step 2. Choose relevant symptoms from the selection box, which displays all symptoms of the selected category. Use the arrow buttons to make your selection.
  • Step 3. Click the "RGD Prediction" button to display a table of ranked disorders based on symptom frequency scores.