ODiseA

ODiseA annotates primary tissues affected by hereditary diseases to support investigation of genotype–phenotype relationships and disease pathogenesis.

Key Features:

• Curated annotations: Contains 4,357 meticulously curated annotations linking 2,181 hereditary diseases to affected tissues.
• Tissue coverage: Annotations span 45 different tissues.
• Pathogenic-tissue annotations: Includes 692 annotations specifying pathogenic tissues for 635 diseases.
• Queryable attributes: Allows queries by disease name, associated gene, or affected tissue.
• Complementary to OMIM and HPO: Highlights primary tissues impacted by hereditary diseases that are not specifically reported in OMIM and HPO.

Scientific Applications:

• Genotype–phenotype mapping: Supports linking disease genes to the organs and tissues they primarily affect.
• Mechanistic studies: Aids elucidation of disease mechanisms by pinpointing the main tissues implicated in hereditary conditions.
• Diagnostic and therapeutic research: Informs development of diagnostic strategies and identification of candidate therapeutic targets based on tissue involvement.

Methodology:

Curated annotations mapping hereditary diseases to affected and pathogenic tissues compiled into a structured database.