Gene set to diseases

Gene set to diseases performs disease enrichment analysis of human protein-coding gene sets by identifying statistically significant gene–disease associations extracted from PubMed citations using an automatically constructed dataset of over 63,000 associations.

Key Features:

• Automated Dataset Construction: Constructs a dataset via automated processing of PubMed biomedical literature citations, producing over 63,000 gene–disease associations and offering coverage broader than many manually curated or experimental sources while maintaining accuracy comparable to the Comparative Toxicogenomics Database (CTD).
• Extensive Disease Coverage: Provides a broader spectrum of disease associations than many curated databases to support more comprehensive enrichment analyses.
• Functional Enrichment Analysis: Performs enrichment by comparing candidate gene sets against a background set to identify significant functions and their relevance to diseases based on the number of associated genes.

Scientific Applications:

• Genomic Research: Linking gene sets to diseases to enhance understanding of genetic contributions to disease.
• Drug Discovery: Identifying candidate therapeutic targets by associating genes with specific diseases.
• Personalized Medicine: Informing disease risk assessments and interpretation of gene sets through gene–disease association data.

Methodology:

Automated extraction of gene–disease co-occurrences from PubMed citations followed by statistical analysis of those co-occurrences to identify significant associations.