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This article introduces the knowledge of "what is DisGeNet". In the operation of actual cases, many people will encounter such a dilemma. Then let the editor lead you to learn how to deal with these situations. I hope you can read it carefully and be able to achieve something!

DisGeNet is a database of genes and mutation sites related to human diseases.

The information in the database comes from the following four parts

Expert curated repositories

GWAS catalogues

Animal models

Scientific literature

By integrating the existing databases of genes or mutations associated with diseases, such as ClinVar, GWASDB, etc., and obtaining the corresponding association information from the literature by machine learning, a unified database of genes / mutation sites associated with genes is finally constructed. In this database, the core information is the following two types

Gene-disease associations (GDAs)

Variant-disease associations (VDAs)

Through the Browser menu, you can view the information in the database, including the following

1. Diseases

This section displays disease or phenotypic information, showing the name of the disease, the disease category given by MeSh, the disease category given by Disease Ontology, the phenotypic classification given by HPO, the number of associated genes and mutations, and so on, as shown below

2. Genes

This section shows the information of the gene, including the gene name, the corresponding protein classification, the number of associated SNP loci, the number of associated diseases, and so on, as shown below.

3. Variants

This section shows the information of the mutation site, showing the corresponding gene of the mutation site, Allels and the corresponding frequency, the number of associated diseases and other information, as shown below.

4. Summary of GDAs

This section shows the information about the association between genes and diseases, as shown below.

5. Evidences for GDAs

This section shows the literature information about the relationship between genes and diseases, as shown below.

6. Summary of VDAs

7. Evidence for VDAs

This section shows the literature information about the association between the mutation site and the disease, as shown below.

The information of the data is downloaded free of charge, and various downstream tools, such as cytoscape APP, R package, API, etc., are provided to facilitate access to the data, as shown in the following figure.

Through the DisGeNet database, the information of genes or mutation sites associated with the disease can be easily obtained.

That's all for "what DisGeNet is". Thank you for your reading. If you want to know more about the industry, you can follow the website, the editor will output more high-quality practical articles for you!

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