hgmd: alias: description: The Human Gene Mutation Database (HGMD) collates data on germ-line mutations in nuclear genes associated with human inherited disease. It includes information on single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation entry is unique, and includes cDNA reference sequences for most genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases. forward: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=${ac} institution: Cardiff University, Cardiff location: Wales more: http://www.hgmd.cf.ac.uk/ac/index.php name: HGMD at Cardiff University pattern: ^[A-Z_0-9]+$ prefixed: false primary: false probe: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CALM1 provider: provider_id: MIR:00100512 redirect: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$id sort_score: 1 state: 0:Unknown subject: disease; human; gene synonym: Human Gene Mutation Database test: CALM1 type: scheme