Features
We adopt Reactome to describe human biological processes, and by mapping disease-associated enzymes in the Reactome pathways, we establish a Reactome-disease association.
This allows a novel categorization of human monogenic and polygenic diseases based on Reactome pathways and reactions.
Our analysis aims at dissecting the complexity of the human genetic disease universe, highlighting all the possible links within diseases and Reactome pathways.
How to browse
Users may browse DAR directly from Disease table, Reactome table, Enzyme table or EC number table.
In the search bar, the user may insert a specific query, having as input:
- UniProt accession number
- Gene name
- Disease (MONDO)
- Disease (OMIM)
- Disease (Orphanet)
- Disease name
- Reactome ID
- Reactome name
- Reactome Root name
- EC number (4 digits)
- EC number (first digit)
In the search bar, the user may insert a specific query, having as input:
- UniProt accession number
- Gene name
- Disease (MONDO)
- Disease (OMIM)
- Disease (Orphanet)
- Disease name
- Reactome ID
- Reactome name
- Reactome Root name
- EC number (4 digits)
- EC number (first digit)