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How to understand OMIM database, in view of this problem, this article introduces the corresponding analysis and answer in detail, hoping to help more partners who want to solve this problem to find a more simple and easy way.

OMIM, whose full name is Online Mendelian Inheritance in Man, is a constantly updated database of human Mendelian genetic diseases. This database focuses on the relationship between human genetic variation and phenotypic traits.

Each record in the database has a unique 6-digit OMIM number. The numbers starting with different numbers have different meanings, where:

The numbers 1 and 2 begin with the associated loci and phenotypes on autosomal chromosomes (created before 1995)

Those beginning with the number 3 represent the relevant loci and phenotypes on the X chromosome.

Those starting with the number 4 represent the relevant sites and phenotypes on the Y chromosome.

The beginning of the number 5 represents the relevant sites and phenotypes on the mitochondria.

The number 6 begins with the associated loci and phenotypes on autosomal chromosomes (created after 1995)

For alleles, each record has a unique MIM number, which consists of two parts separated by dots. The dot is preceded by the OMIM number of the mutation site, followed by a unique ID of four digits, which is used to record alleles.

Take IX gene as an example, the corresponding alleles have two MIM numbers of 300746.0001 and 300746.0101.

The database is constantly updated, and as of May 29, 2018, the data in the database are as follows:

The records in the database are divided into five categories.

1. Gene description

This kind of record begins with "*" and mainly records information about genes, such as 100640

2. Gene and phenotype, combined

This record starts with + and describes the association between genes and phenotypes, such as 100650

On the web page, the association between genes and phenotypes is given.

3. Phenotype description, molecular basis known

This record begins with # and describes phenotypic information with clear molecular mechanisms, such as 100100

In the Text field, detailed information about the gene mutation associated with the phenotype is given.

4. Phenotype description or locus, molecular basis unknown

This record starts with% and describes phenotypic information whose molecular mechanism is unclear. There are usually diseases controlled by a variety of genetic factors, with a large number of related mutations, such as 100070.

5. Other

For other types of records, this part of the record does not have any prefix, such as 10050

At present, the complete data of the website is only available for download by scientific research institutions. The link to the download page is as follows.

Https://omim.org/downloads/

The mim2gene.txt can be downloaded by everyone, which contains the numbers of all the records in the database.

The ID in the first column is the omim number. After knowing the number, you can quickly get the corresponding page. The link format is as follows.

Https://omim.org/entry/100640

Although it can not be downloaded to the complete database, but only according to the number, you can quickly get the desired information. If you are good at programming, you can also crawl all the web pages and build a local version of the database.

This is the answer to the question on how to understand the OMIM database. I hope the above content can be of some help to you. If you still have a lot of doubts to be solved, you can follow the industry information channel to learn more about it.

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