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.

Prefix
hgmd
Links
Homepage
Contact
Missing Contact
Pattern
^[A-Z_0-9]+$
Namespace in Pattern
False
Example Identifier
CALM1   Resolve
Metaregistry

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

Registry Name Metaprefix Metaidentifier
Identifiers.org miriam hgmd
Name-to-Thing n2t hgmd
Prefix Commons prefixcommons HGMD
Providers

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 http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CALM1
Bioregistry bioregistry https://bioregistry.io/hgmd:CALM1
Identifiers.org miriam https://identifiers.org/hgmd:CALM1
Name-to-Thing n2t https://n2t.net/hgmd:CALM1