@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA
> .
@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:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_head
{
this:
np:hasAssertion
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_assertion
;
np:hasProvenance
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_provenance
;
np:hasPublicationInfo
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_assertion
a
np:Assertion
.
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_provenance
a
np:Provenance
.
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_assertion
{
miriam-gene:65018
a
ncit:C16612
.
lld:C0030567
a
ncit:C7057
.
dgn-gda:DGNb8679ef3c1a4838c7cdd6fdc133b7c92
sio:SIO_000628
miriam-gene:65018
,
lld:C0030567
;
a
sio:SIO_001122
.
}
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_provenance
{
dgn-np:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_assertion
dcterms:description
"[Although it remains difficult to conclusively demonstrate the pathogenicity of heterozygous mutations, the results of this study and the previously reported subclinical nigrostriatal dysfunction in carriers of heterozygous PINK1 mutations suggest the possibility that these heterozygous mutations are a significant risk factor in the development of later onset PD.]. 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:16969854
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP53153.RA84oyUqSBtLOW2jxwctLbF5z4sA1rYcL1kd-qnM_s7BA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
}