DISNOR

DISNOR integrates gene-disease association (GDA) data from DisGeNET with curated causal interactions from SIGNOR to assemble inferred disease networks and analyze molecular mechanisms underlying pathological phenotypes.

Key Features:

• Data integration: Integrates gene-disease association (GDA) data from DisGeNET with causal interactions curated in SIGNOR.
• Inferred disease networks: Assembles over 3,700 disease networks interconnecting approximately 2,600 disease genes.
• Patho-pathway assembly: Links disease genes through manually annotated causal relationships to generate inferred "patho-pathways".
• User-defined input: Accommodates user-defined gene lists in the query pipeline for customized analyses.
• Functional enrichment: Performs gene set enrichment analysis on KEGG-defined pathways and on proteins associated with inferred disease pathways.
• Disease similarity assessment: Enables comparison of diseases based on shared molecular interactions and enriched pathways.

Scientific Applications:

• Elucidation of disrupted signaling: Identification of signaling events whose disruption may lead to pathological phenotypes by tracing causal interactions among disease genes.
• Reconstruction of molecular disease mechanisms: Reconstruction and exploration of disease-specific molecular interaction networks ("patho-pathways").
• Pathway-level interpretation: Interpretation of disease-associated genes at the pathway level via KEGG-based gene set enrichment.
• Disease similarity analysis: Comparative analysis of diseases based on shared genes, causal interactions, and enriched pathways.
• Contextualization of custom gene lists: Mapping of user-provided gene sets onto curated disease networks to contextualize findings within known disease mechanisms.

Methodology:

Integrates GDA data from DisGeNET with causal interactions curated in SIGNOR; links disease genes via manually annotated causal relationships to assemble inferred disease networks; performs gene set enrichment analysis on KEGG-defined pathways and on proteins associated with inferred disease pathways; accepts user-defined gene lists in the query pipeline.