@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:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_head { this: np:hasAssertion dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_assertion; np:hasProvenance dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_provenance; np:hasPublicationInfo dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_publicationInfo; a np:Nanopublication . dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_assertion a np:Assertion . dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_provenance a np:Provenance . dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_assertion { miriam-gene:351 a ncit:C16612 . lld:C0085400 a ncit:C7057 . dgn-gda:DGNde50daae3a89e63d55e398ee1bc0dc05 sio:SIO_000628 miriam-gene:351, lld:C0085400; a sio:SIO_001121 . } dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_provenance { dgn-np:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_assertion dcterms:description "[Autosomal dominant familial AD (FAD), linked to mutations in presenilin (PS1 and PS2) genes or the amyloid precursor protein (APP) gene, shows brain abnormalities (e.g., neurofibrillary tangles, deposits of .-amyloid A., and death of subsets of neurons) similar to those that occur in sporadic AD, the risk of which is enhanced by the presence of one or two copies of apolipoprotein E4 (apoE4) alleles.]. 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:9683997; 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:NP1400763.RAZsFCENBx6_J1LSsni46s-WrYmH7ZnTJXkwrAd17s7AA130_publicationInfo { this: dcterms:created "2016-05-13T12:52:21+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" . }