@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_head {
  this: np:hasAssertion dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion ;
    np:hasProvenance dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance ;
    np:hasPublicationInfo dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion a np:Assertion .
  dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance a np:Provenance .
  dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion {
  miriam-gene:30061 a ncit:C16612 .
  lld:C0019247 a ncit:C7057 .
  dgn-gda:DGNc9fe2e3f620cabbb8e17e9fcbb509fc9 sio:SIO_000628 miriam-gene:30061 , lld:C0019247 ;
    a sio:SIO_001121 .
}
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance {
  dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion dcterms:description "[Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:17997113 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:53+02:00"^^xsd:dateTime ;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dcterms:rightsHolder dgn-void:IBIGroup ;
    dcterms:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetrdf ;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
    pav:version "v2.1.0.0" .
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}