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.
Local identifiers in Human Gene Mutation Database should match this
Compact URIs (CURIEs) constructed from Human Gene Mutation Database should match
this regular expression:
The metaregistry provides mappings between the Bioregistry and other registries. There are
3 mappings to external registries for
|Registry Name||Metaprefix||External Prefix|
Providers are various services that resolve CURIEs to URLs. The example CURIE
hgmd:CALM1 is used to demonstrate the provides available for
hgmd. Generation of OLS and BioPortal URLs requires additional programmatic
logic beyond string formatting.
|Human Gene Mutation Database||