Endometriosis is a polygenic reproductive disorder which affects the quality of life in women. The incidence of endometriosis is approximately 10% in premenopausal women. Despite identification of a number of genes, the genetic aetiology of endometriosis is still unclear. The complex genetic aetiology and pathophysiology of endometriosis makes non-invasive diagnosis and therapy a daunting task. The delay in diagnosis, high rate of recurrence post-surgery and high risk of comorbid conditions like infertility, cancers and autoimmune disorders necessitate the need of a global approach to understand the genetic aetiology of the disease.
The Endometriosis Knowledgebase is a consolidated resource on genes associated with endometriosis developed with an aim to augment research on the disease. The knowledgebase is manually curated for gene associations with endometriosis. The genes are further annotated with information on known polymorphisms/ mutations, pathways, gene ontology’s and comorbid disease conditions. Tools for gene enrichment, SNP analysis, BLAST have been integrated in the knowledgebase to facilitate use of integrative approaches to delineate diagnostic markers and identify targets for therapy. The knowledgebase currently holds information on 831 genes associated with endometriosis. The information in Endometriosis Knowledgebase will help gain useful insights on the genetic aetiology and pathophysiology of the disease.