NCBI. The Blood Group Antigen Gene Mutation Database (dbRBC) documents variations in genes that directly or indirectly affect blood groups. It thus is a locus-specific mutation database (LSDB) that covers multiple genes.
Search for information on defects in the Bruton tyrosine kinase (BTK) gene, which causes agammaglobulinemia (XLA). USE WITH CAUTION: DATABASE HAS NOT BEEN UPDATED SINCE 2008.
CarpeDB serves as a novel source for epilepsy researchers by featuring scores of "epilepsy genes" and associated publications in one locus. Furthermore, multiple genes implicated in epilepsy are also implicated in other human disorders.
A collection of conserved sequence elements, identified by a systematic genomic sequence comparison between a set of human genes involved in the pathogenesis of genetic disorders and their murine (mouse) counterparts.
The goal of MutDB is to annotate human variation data with protein structural information and other functionally relevant information, if available. The mutations are organized by gene.