appears_in: []
depends_on: []
deprecated: false
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.
example: CALM1
homepage: http://www.hgmd.cf.ac.uk/ac/index.php
keywords: []
mappings:
  biocontext: HGMD
  edam: '3265'
  integbio: nbdc00097
  miriam: hgmd
  n2t: hgmd
name: Human Gene Mutation Database
namespace_in_lui: false
pattern: ^[A-Z_0-9]+$
preferred_prefix: hgmd
prefix: hgmd
providers: []
publications: []
synonyms: []
uri_format: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$1
