This database aims to record all published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1 and PPIB genes.

This resource is a provider. This means that while it may have its own prefix, it actually reuses the identifiers provided by the hgnc.symbol prefix. For all use cases, you should use hgnc.symbol instead of collagenmutdb.

Prefix
collagenmutdb
Links
Homepage
Contact
Missing Contact
Pattern for Local Unique Identifiers
Missing LUI pattern
Example Local Unique Identifier
COL3A1   Resolve
Pattern for CURIES
Could not construct CURIE pattern
Example CURIE
collagenmutdb:COL3A1
Reviewer
Charles Tapley Hoyt   0000-0003-4423-4370   cthoyt
Ontology
Provides
hgnc.symbol
Metaregistry Collagen Mutation Database

The metaregistry provides mappings between the Bioregistry and other registries. There are 1 mappings to external registries for collagenmutdb with 1 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
Prefix Commons prefixcommons cmd
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE collagenmutdb:COL3A1 is used to demonstrate the provides available for collagenmutdb. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
Collagen Mutation Database collagenmutdb https://eds.gene.le.ac.uk/home.php?select_db=COL3A1
Bioregistry bioregistry https://bioregistry.io/collagenmutdb:COL3A1