Human Gene Mutation Database (HGMD®) is the gold standard industry-leading resource for comprehensive coverage of published human inherited disease mutations. Unlike other mutation databases, HGMD mutations are backed by peer-reviewed publications where there is evidence of clinical impact.
You can also prioritize variants by disease concepts via the drop-down menu.
You now have the ability to browse HGMD phenotypes mapped to the UMLS (grouped into disease concepts, e.g., blood disorders) during the phenotype search. You can also filter results using these disease concepts in batch search mode (see above).
To get the most out of your HGMD subscription, please watch the video tutorials available at our Resources webpage.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Watch a recorded webinar featuring ANNOVAR here.
View the complete Genome Trax™ statistics
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2018.3, PROTEOME™ release 2018.3.
