@prefix orcid: .
@prefix dcterms: .
@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:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_head {
this: np:hasAssertion dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_assertion;
np:hasProvenance dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_provenance;
np:hasPublicationInfo dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_publicationInfo;
a np:Nanopublication .
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_assertion a np:Assertion .
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_provenance a np:Provenance .
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_assertion {
miriam-gene:351 a ncit:C16612 .
lld:C0002395 a ncit:C7057 .
dgn-gda:DGNc573c287b981655783713a033582cf5c sio:SIO_000628 miriam-gene:351, lld:C0002395;
a sio:SIO_001122 .
}
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_provenance {
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_assertion dcterms:description
"[Mutations in the genes encoding the presenilins (PS1 and PS2) and amyloid precursor protein (APP) are associated with FAD, whereas mutations in the prion protein (PrP) gene are associated with prion disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:10631141;
prov:wasDerivedFrom dgn-void:uniprot-20130724;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}
dgn-np:NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo130_publicationInfo {
this: dcterms:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms: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" .
}