@prefix dct: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_head { this: np:hasAssertion dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_assertion; np:hasProvenance dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_provenance; np:hasPublicationInfo dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_publicationInfo; a np:Nanopublication . dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_assertion a np:Assertion . dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_provenance a np:Provenance . dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_publicationInfo a np:PublicationInfo . } dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_assertion { miriam-gene:30061 a ncit:C16612 . lld:C1853733 a ncit:C7057 . dgn-gda:DGN0250e78d9ac95c3f6d2e865383726436 sio:SIO_000628 miriam-gene:30061, lld:C1853733; a sio:SIO_001122 . } dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_provenance { dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_assertion dct:description "[Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:12857562; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP2775.RAcz9sPiv5qOI4unbfKUOWPSZkR5EJGtNrRlEOmTZMDyY130_publicationInfo { this: dct:created "2016-05-13T12:41:51+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }