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
.
collagenmutdb
A summary of the relations in the Bioregistry schema can be found here.
The metaregistry provides mappings between the Bioregistry and other registries. There are 1 mappings to external registries for this resource with 1 unique external prefixes.
Registry Name | Registry Metaprefix | External Prefix | Curate |
---|---|---|---|
Prefix Commons | prefixcommons |
cmd
|
Providers are various services that resolve CURIEs to URLs. The example CURIE
collagenmutdb:COL3A1
is used to demonstrate the provides available for
this resource. 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 |
Additional providers curated in the Bioregistry are listed here.
Code | Name | URL |
---|---|---|
bio2rdf |
Bio2RDF | http://bio2rdf.org/cmd:COL3A1 |