Genetic alterations/variants of enhancers make an essential contribution to disease progression. And more than 3 million of enhancers generated by international consortiums indicated that disease enhancers will open a brand new view of pathophysiology.

DiseaseEnhancer provides a comprehensive map of manually curated disease enhancers, which includes 732 disease enhancers in 75 human diseases, involing 908 unique enhancer-gene interactions. We also manually collected their dysregulated target genes and mechanistic-related information, such as the associated variant types (including single nucleotide variant, somatic mutation, indel and copy number alteration) and affected transcription factor bindings. Additional genome data were also integrated into DiseaseEnhancer to help characterize disease enhancers.