@prefix orcid: <
http://orcid.org/
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP441.RAuNKEUI7knVbyeaaXrglbP5_qSaR6AiCg30DyMPA1KPo
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
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" .
}