@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 dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_head { this: np:hasAssertion dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_assertion; np:hasProvenance dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_provenance; np:hasPublicationInfo dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_publicationInfo; a np:Nanopublication . dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_assertion a np:Assertion . dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_provenance a np:Provenance . dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_publicationInfo a np:PublicationInfo . } dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_assertion { miriam-gene:3077 a ncit:C16612 . lld:C0392514 a ncit:C7057 . dgn-gda:DGN8cb4af753734212eb38925b8a14b2b9f sio:SIO_000628 miriam-gene:3077, lld:C0392514; a sio:SIO_001122 . } dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_provenance { dgn-np:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_assertion dcterms:description "[Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins.]. 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:12537659; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP380829.RAca0lPPN7iO0NyCUjz0Nl5mhC94iH5dY3zsW6mddIHCs130_publicationInfo { this: dcterms:created "2016-05-13T12:44:38+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }