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Disease Resource | ATLAS-D2K Center

Disease Resource

Genitourinary gene expression, development and disease

Studying gene expression in the genitourinary (GU) system is useful to understand GU disease. It supports our understanding of disease mechanisms. If we know that a particular disease affects the GU system we can look at which genes are expressed (or not expressed) in the affected GU tissues and structures. This helps us to better understand how mutations in these genes or disruptions in their expression can play a role in disease.

A gene may have a limited pattern of expression – only being active in a few particular structures and at a few particular times. If this gene is faulty then it is likely to have consequences for the function and/or development of those structures, potentially giving rise to disease.

Studying development is important as some diseases can occur as a consequence of events that take place during development. Problems during development can result in the incorrect formation of structures, the consequences of which can lead to disease. For example, reduced nephron number may lead to the early onset of renal disease. Understanding development, in particular the role of stem cells, may also lead to future therapies based on regeneration.

For more information go to the Genitourinary Disease section of the "Community Tools" page.

About the Resource

The development of the GUDMAP Disease Resource has involved obtaining disease-gene association, primarily from OMIM, and building this data into the GUDMAP database architecture. This has enabled the disease data to be integrated with the existing gene expression data which has enhanced GUDMAP as a research tool for genitourinary development and disease.

The GUDMAP Disease Resource provides tools to search GUDMAP for:

  • associations between genes and diseases of the genitourinary system (Coming soon)
  • associations between genes and Mammalian Phenotype (MP) terms from the renal/urinary & reproductive systems (Coming soon)

Go to GUDMAP Disease Resource Information for more details on how disease-gene and phenotype-gene associations are determined.