@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:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_head { this: np:hasAssertion dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_assertion; np:hasProvenance dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_provenance; np:hasPublicationInfo dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_publicationInfo; a np:Nanopublication . dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_assertion a np:Assertion . dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_provenance a np:Provenance . dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_assertion { miriam-gene:7045 a ncit:C16612 . lld:C1690006 a ncit:C7057 . dgn-gda:DGN844756db7f1039cfb81a8649f676cdb4 sio:SIO_000628 miriam-gene:7045, lld:C1690006; a sio:SIO_001121 . } dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_provenance { dgn-np:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_assertion dcterms:description "[Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities.]. 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:12700042; 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:NP391223.RAiYBhIFSZiegibdSBXQ_DZC0pjKfu4Jpblirpi81UCbQ130_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" . }