Registry Human Gene Mutation Database

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.

Missing Contact
Namespace in Pattern
Example Identifier
CALM1   Resolve

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for hgmd.

Registry Name Metaprefix Metaidentifier miriam hgmd
Name-to-Thing n2t hgmd
Prefix Commons prefixcommons HGMD

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.

Name Metaprefix URL
Human Gene Mutation Database hgmd
Bioregistry bioregistry miriam
Name-to-Thing n2t