@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:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_head { this: np:hasAssertion dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_assertion; np:hasProvenance dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_provenance; np:hasPublicationInfo dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_publicationInfo; a np:Nanopublication . dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_assertion a np:Assertion . dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_provenance a np:Provenance . dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_publicationInfo a np:PublicationInfo . } dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_assertion { miriam-gene:7036 a ncit:C16612 . lld:C0282193 a ncit:C7057 . dgn-gda:DGN631a510302e49c3364ff120da2a54be8 sio:SIO_000628 miriam-gene:7036, lld:C0282193; a sio:SIO_001122 . } dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_provenance { dgn-np:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_assertion dcterms:description "[The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations.]. 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:17886335; 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:NP631252.RAu-s-C2cjJ4PFu3iVvI34B-gMxMWYS_JYZQETXDQ_kAk130_publicationInfo { this: dcterms:created "2016-05-13T12:46:31+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" . }