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GUDMAP Disease Database

About GUDMAP Disease
The GUDMAP Disease Database uses disease terms obtained from OMIM. In total 880 OMIM Disease terms are contained within the database.

Method - determining disease/gene associations
Disease terms were obtained by querying OMIM searching for the terms "genitourinary" OR "GU" OR "renal" within the Clinical Synopsis field of the OMIM entry. The search was restricted to entries with either the #(pound), %(percent) or 'none' prefix. These three properties ensure that only entries that describe phenotypes are returned (avoiding gene entries). In order to obtain associations between these OMIM disease terms and genes the query was run with an additional text search for the gene symbol within the main text of the OMIM entry.

As a consequence some gene symbols, such as 'T' and 'Ar' produced a large number of associations with OMIM entries, the majority of which may be spurious. Please note this when inspecting results. For example, a search for the gene 'T' will bring back associations with 119 different diseases, many of these association could be spurious given that the text string 'T' is likely to appear often in the main text of the OMIM entry.

Also note that the associations between genes and diseases some associations may not necessarily be positive - e.g. a gene and a disease could be associated because it is known that the gene does not play any role in disease (e.g. Adams-Oliver Syndrome and Msx1). It is important therefore to follow the link to OMIM to confirm the nature of the association.


Querying the GUDMAP Disease Database

To search for genes associated with a genitourinary disease:

Select the genitourinary disease that you are interested in from the pull-down menu. Then click 'Search'. The query will bring back all genes that have in-situ data in GUDMAP gene expression database that are associated with the disease chosen.

DISEASE:

To search for diseases associated with a known gene:

The pull-menu lists all genes with in-situ data with the GUDMAP gene expression database that have associations with OMIM genitourinary diseases. Select your gene of interests and click 'Search'. The query will bring back all disease that are associated with the chosen gene.

GENE:

To search for all genes associated either a renal/urinary OR reproductive system phenotype:

The pull-down menu lists Mammalian Phenotypes (MP) for the Renal/Urinary System and the Reproductive System. Select the phenotype of interest and click 'Search'. The query returns a list of any genes (with in-situ data with the GUDMAP gene expression database) associated with the chosen phenotype and the genitourinary diseases associated with those genes.

PHENOTYPE: