{"prefix":"collagenmutdb","name":"Collagen Mutation Database","description":"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.","uri_format":"https://eds.gene.le.ac.uk/home.php?select_db=$1","providers":[{"code":"bio2rdf","name":"Bio2RDF","description":"Bio2RDF is an open-source project that uses Semantic Web technologies to build and provide the largest network of Linked Data for the Life Sciences. Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked Data from a diverse set of heterogeneously formatted sources obtained from multiple data providers.","homepage":"https://bio2rdf.org","uri_format":"http://bio2rdf.org/cmd:$1"}],"homepage":"http://www.le.ac.uk/genetics/collagen/","example":"COL3A1","example_extras":[],"provides":"hgnc.symbol","deprecated":false,"mappings":{"prefixcommons":"cmd"},"synonyms":[],"keywords":["gene"],"publications":[],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"reviewer":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"collagenmutdb"}