@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:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_head { this: np:hasAssertion dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_assertion; np:hasProvenance dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_provenance; np:hasPublicationInfo dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_publicationInfo; a np:Nanopublication . dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_assertion a np:Assertion . dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_provenance a np:Provenance . dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_publicationInfo a np:PublicationInfo . } dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_assertion { miriam-gene:3077 a ncit:C16612 . lld:C0023895 a ncit:C7057 . dgn-gda:DGN8e1fd6e09a29db75e4407d0e4a21e9a9 sio:SIO_000628 miriam-gene:3077, lld:C0023895; a sio:SIO_001122 . } dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_provenance { dgn-np:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_assertion dcterms:description "[Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy.]. 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:12678056; 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:NP389879.RAsfhcVUw-MVzUhm3trGEyf3mP2hORrvHF9FAEJOtKO5c130_publicationInfo { this: dcterms:created "2016-05-13T12:44:42+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" . }