Wouldn't it be nice if someone, somewhere out there decided to compile a nice big, searchable list of all the thousands of human disease-causing mutations that so many labs have been finding for so many years? So that instead of getting a googled list of websites, or a PubMed list of articles, you could just see a nice neat list of all the known mutations linked to Hodgkin Lymphoma or all the mutations in PTEN or NOD2 that cause inherited disease?
Here it is! Human Genome Mutation Database (HGMD) curators comb the literature for reports of inherited, disease-causing mutations and disease-associated polymorphisms in human nuclear DNA. Each gene record contains a list of published mutations organized by type (missense, splicing, regulatory, etc.), a list of diseases it is associated with, Gene Ontology terms and links to OMIM and other information sources. There's also a link to the PubMed record for the publication originally reporting each mutation. You can search the database several different ways: by gene, by disease or phenotype, by chromosomal location and more.
A few things to remember about HGMD: it contains published mutations in nuclear genes that cause inherited disease. No mitochondrial mutations (though there are links to Mitomap), no somatic mutations. And you may want to read about their criteria for inclusion if you are curious about what exactly "cause" means in "disease-causing", or just how "associated" a "disease-associated polymorphism" needs to be.
As always, please let us know if you have any questions or comments about this new resource!

