Digenic Diseases Database (DIDA)

Digenic Diseases Database (DIDA) catalogs digenic variant combinations and associated annotations to support research into digenic diseases, the simplest form of oligogenic inheritance, and their molecular mechanisms.

Key Features:

• Comprehensive Data Repository: Contains detailed records of 213 digenic combinations associated with 44 distinct digenic diseases, comprising 364 unique variants across 136 genes.
• Curated Annotations: Each entry includes manually curated information supplemented by data mined from other online resources.
• Contribution Capability: Supports submission of novel digenic data from researchers to expand the dataset.
• Reference Integration: Links each record to the original publications from which the data were collected.

Scientific Applications:

• Clinical and Molecular Genetics: Provides centralized data to aid clinical and molecular geneticists in interpreting digenic variant combinations.
• Analytical Method Development: Enables development and benchmarking of analytical methods tailored to digenic inheritance patterns.
• Disease Mechanism Studies: Facilitates investigation of molecular mechanisms underlying digenic diseases.
• Diagnostics and Therapeutics: Supports research that may inform diagnostic interpretation and therapeutic hypothesis generation for digenic conditions.

Methodology:

Manual curation of reported digenic combinations and data mining from other online resources.