Title: Knowledge Graph for Comparing Disease-Gene Associations Across Species

Explored by: Francesco Musella, Alex Flynn-Carroll, Jack Dodson

Description.

Use cases

• Disease → Find most conserved orthologous genes
• Useful for translating results from mouse to human
• Compare different similarity metrics
• Scan list of disease → find most “conserved” disease
• Find diseases that share common orthologs
• Disease for which orthologous are the most similar
• Useful for choosing disease to study

APIs Used

• Mygene.info (disease to gene)
• Ensembl (homology)
• UniProt (gene to protein)
• Diseases included
  • Bipolar disorder
  • High blood pressure
  • Cardiovascular disease
  • Rheumatoid arthritis
  • Anxiety disorder
  • Sickle cell
  • Arrhythmia
  • CAD
  • COPD
  • Stroke

Network (zoomed-in view)

Summary Statistics

Tutorial: not available; ask authors.

Future Directions

• Additional information to add:
  • More genes
    • Add a wider range of API’s
    • Include less established associations (GWAS Catalog)
  • More proteins
  • Wider range of diseases
  • Different species
• Add biological pathways as nodes
• Develop more robust similarity metrics