@prefix biocontext: . @prefix bioregistry: . @prefix bioregistry.metaresource: . @prefix bioregistry.schema: . @prefix dcterms: . @prefix edam.data: . @prefix foaf: . @prefix integbio: . @prefix miriam: . @prefix n2t: . @prefix rdfs: . @prefix skos: . @prefix xsd: . bioregistry.metaresource:biocontext dcterms:hasPart biocontext:HGMD . bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:hgmd . bioregistry.metaresource:edam dcterms:hasPart edam.data:3265 . bioregistry.metaresource:integbio dcterms:hasPart integbio:nbdc00097 . bioregistry.metaresource:miriam dcterms:hasPart miriam:hgmd . bioregistry.metaresource:n2t dcterms:hasPart n2t:hgmd . bioregistry:hgmd a bioregistry.schema:0000001 ; rdfs:label "Human Gene Mutation Database" ; dcterms:description "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."^^xsd:string ; dcterms:isPartOf bioregistry.metaresource:bioregistry ; skos:exactMatch edam.data:3265, biocontext:HGMD, n2t:hgmd, integbio:nbdc00097, miriam:hgmd ; foaf:homepage ; bioregistry.schema:0000005 "CALM1"^^xsd:string ; bioregistry.schema:0000006 "http://www.hgmd.cf.ac.uk/ac/gene.php?gene=$1"^^xsd:string ; bioregistry.schema:0000008 "^[A-Z_0-9]+$"^^xsd:string ; bioregistry.schema:0000012 false ; bioregistry.schema:0000024 "http://www.hgmd.cf.ac.uk/ac/gene.php?gene="^^xsd:string ; bioregistry.schema:0000027 ; bioregistry.schema:0000029 "hgmd" . edam.data:3265 dcterms:isPartOf bioregistry.metaresource:edam . biocontext:HGMD dcterms:isPartOf bioregistry.metaresource:biocontext . n2t:hgmd dcterms:isPartOf bioregistry.metaresource:n2t . integbio:nbdc00097 dcterms:isPartOf bioregistry.metaresource:integbio . miriam:hgmd dcterms:isPartOf bioregistry.metaresource:miriam .