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.

Prefix

hgmd

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Local identifiers in Human Gene Mutation Database should match this regular expression:
^[A-Z_0-9]+$

Example Local Unique Identifier

CALM1   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Gene Mutation Database should match this regular expression:
^hgmd:[A-Z_0-9]+$

Example CURIE

hgmd:CALM1

The metaregistry provides mappings between the Bioregistry and other registries. There are 4 mappings to external registries for hgmd with 2 unique external prefixes.

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.