@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_head
{
this:
np:hasAssertion
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_assertion
;
np:hasProvenance
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_provenance
;
np:hasPublicationInfo
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_assertion
a
np:Assertion
.
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_provenance
a
np:Provenance
.
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_assertion
{
miriam-gene:3064
a
ncit:C16612
.
lld:C0162534
a
ncit:C7057
.
dgn-gda:DGNd5163adf7802f41204181f666fe0c230
sio:SIO_000628
miriam-gene:3064
,
lld:C0162534
;
a
sio:SIO_001121
.
}
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_provenance
{
dgn-np:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_assertion
dcterms:description
"[This observation raises the possibility that an unknown number of HD phenocopies are, in fact, familial prion diseases and argues that clinicians should consider screening for PrP mutations in individuals with HD-like diseases in which the characteristic HD (CAG)n repeat expansions are absent.]. 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:11593450
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP879538.RAAzg0hpTGR7Qe0b4Lu-DgEgraf7E3unVlrUPjvbGepbA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:57+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
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}