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CORE PLATFORM

Disease Profile

The complete molecular picture of any disease — gene, variant, mechanism, and drug candidates in one view

Open Disease Profile →

What it does

  • ·Enter a disease or gene variant (e.g. CFTR G551D for Cystic Fibrosis)
  • ·See: ICD-10 code, OMIM entry, prevalence, inheritance pattern
  • ·Mechanism hypotheses — AI-ranked explanations of how the mutation causes disease
  • ·Drug candidates — existing and predicted drugs, confidence-scored
  • ·Evidence snippets — linked PubMed citations supporting each claim

Example

Cystic Fibrosis — CFTR G551D
ICD-10: E84  ·  OMIM: 219700  ·  Prevalence: 1:3,500 births
Top drug: Ivacaftor (VX-770) · Confidence 0.96 · FDA approved 2012