@prefix dct: . @prefix orcid: . @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:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_head { this: np:hasAssertion dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_assertion; np:hasProvenance dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_provenance; np:hasPublicationInfo dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_publicationInfo; a np:Nanopublication . dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_assertion a np:Assertion . dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_provenance a np:Provenance . dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_publicationInfo a np:PublicationInfo . } dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_assertion { miriam-gene:30813 a ncit:C16612 . lld:C0022578 a ncit:C7057 . dgn-gda:DGNc1a2eed8f3dacb4ab4e62a192665c2aa sio:SIO_000628 miriam-gene:30813, lld:C0022578; a sio:SIO_001122 . } dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_provenance { dgn-np:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_assertion dct:description "[The absence of pathogenic mutations in VSX1, SOD1, COL4A3, and COL4A4 genes in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder; nevertheless, a significant correlation of a few polymorphisms indicates that there could be a link between specific polymorphisms and KC disease.]. 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:20664914; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP59260.RA2OOwf2PeGFp7u2dOR0uu3wuYXGhATdW__AKlE3BYUzc130_publicationInfo { this: dct:created "2014-10-02T12:32:28+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }