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
4 mappings to external registries for
2 unique external prefixes.
|Registry Name||Registry Metaprefix||External Prefix||Curate|
Providers are various services that resolve CURIEs to URLs. The example CURIE
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||