@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:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_head { this: np:hasAssertion dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion; np:hasProvenance dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance; np:hasPublicationInfo dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo; a np:Nanopublication . dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion a np:Assertion . dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance a np:Provenance . dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion { miriam-gene:24 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGNb4ba4c39bb4f27a95e24b2f433e4d90d sio:SIO_000628 miriam-gene:24, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance { dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion dcterms:description "[Ophthalmologic findings included markedly reduced visual acuity, bull's eye maculopathy, foveal hyperpigmentation, peripapillary atrophy, dyschromatopsia, extinguished photopic responses, and reduced scotopic responses observed on electroretinography consistent with the CRD phenotype often associated with ABCA4 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:25356532; 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:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo { this: dcterms:created "2016-05-13T12:51:05+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" . }