{"prefix":"hgmd","name":"Human Gene Mutation Database","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.","pattern":"^[A-Z_0-9]+$","uri_format":"http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$1","providers":[],"homepage":"http://www.hgmd.cf.ac.uk/ac/index.php","owners":[{"ror":"03kk7td41","name":"Cardiff University, Cardiff"}],"example":"CALM1","example_extras":[],"deprecated":false,"mappings":{"biocontext":"HGMD","edam":"3265","integbio":"nbdc00097","miriam":"hgmd","n2t":"hgmd"},"synonyms":[],"keywords":["cdna/est","genome/gene","health/disease","sequence"],"publications":[],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"hgmd"}