Help Searching the Human Gene Mutation Database

If you refer to HGMD in any publication, please cite Stenson et al (2003), The Human Gene Mutation Database (HGMD®): 2003 Update. Hum Mutat (2003) 21:577-581. Articles describing the HGMD facility have also appeared in Trends Genet (1997) 13:121-122, Nucleic Acids Res (1998) 26: 285-287 and Hum Mutat (2000) 15: 45-51. A list of recent journal articles written utilising HGMD data and published by authors within HGMD can be found here.

Primary search

HGMD can be searched by entering search terms and selecting the area of HGMD in which to search.

Enter search term:

There are five ways HGMD may be searched.

1. Gene symbol search - searches HGMD for the official HUGO Gene Nomenclature Committee gene symbol.

2. Gene description search - searches HGMD for the full gene description, again as recorded by the Nomenclature Committee. Older gene symbols (if present) can also be searched for here.

3. OMIM number search - OMIM gives each gene entry in its database a unique number, which can also be used to search HGMD.

4. GDB number search - GDB gives each gene entry in its database a unique number, which can also be used to search HGMD.

5. Disease/phenotype search - Searches HGMD for the disease/phenotype associated with reported mutations in HGMD genes.

Results will contain a list of genes associated with your search terms. To access the HGMD record for that gene, click on the gene symbol.

Wildcards (*) are permitted when conducting gene symbol, gene description or disease/phenotype searches. Also, alternate spelling support has recently been added. For example "haemophilia" and "hemophilia" should now both lead to the F8 and F9 genes. The alternate spelling function will only work with complete words. If you find any alternate spellings for words which are not supported, please report them to us using our comment form.

Secondary search


The secondary search allows users to jump to a specific mutation data set if the exact gene symbol is known. This search will only function with the correct HUGO Nomenclature Committee gene symbol. Please note that users must now register for access to HGMD mutation data.

Problems ?

Firstly, always make sure you are searching with the correct option selected. You cannot use a gene symbol search to find a disease. If you are getting error messages you need to alter your search strategy. If you are getting too many "not found" errors when searching for gene symbols, you should try searching gene descriptions instead. For example, CD95 is the old symbol for FAS. It will not appear in a gene symbol search, but it will appear in a gene description search. If you are not getting the results you require when using a gene description or disease/phenotype search, you can try to narrow your search. For example, entering "cancer" as a disease/phenotype search term will produce too many results. Narrowing it to something like "gastric cancer" may produce the desired results.

Please also note that since OMIM numbers and GDB numbers are unique, they will always only produce a single result.

Have I got the right browser ?

The HGMD pages should work correctly with any modern browser. These include the most popular browsers such as Netscape Navigator, NCSA Mosaic, Microsoft Internet Explorer, Mozilla, FireFox and Opera. Text-only browsers such as Lynx can also operate HGMD correctly although some pages will look odd. Whilst Mozilla is used for testing in Cardiff, the pages have not been enhanced specifically for Mozilla, and should work well with any other program that supports tables and forms. Almost all browsers support forms properly, and although those browsers unable to handle tables will look somewhat untidy, they will perform all searching duties correctly.

We are working toward making our code compliant with HTML v4.01. If your browser is not capable of this, it will only mean that the presentation on your screen is not identical to ours. The results generated from search requests should not be affected. A problem with graphical rendering of PNG alpha transparency has been noted for versions 5.5 and 6 of Internet Explorer. Since we are not going to make allowances for specific browsers, we are unable to do anything about this problem. If the incorrect graphical display of PNG alpha transparency in Internet Explorer is interfering with your enjoyment of the HGMD site, we suggest that you use an alternative web browser.

Can I bookmark any page ?

With browsers such as Netscape or NCSA Mosaic it is possible to 'bookmark' individual pages from HGMD, be it a single gene page or even this help page. We do not recommend this though, as not only are you likely to miss important notices placed on the HGMD home page, but we also reserve the right to change the internal structure of the database as required. We therefore recommend bookmarking the HGMD home page, at www.hgmd.org, the address of which will not be changed.

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