@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U
> .
@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:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_head
{
this:
np:hasAssertion
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_assertion
;
np:hasProvenance
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_provenance
;
np:hasPublicationInfo
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_assertion
a
np:Assertion
.
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_provenance
a
np:Provenance
.
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_assertion
{
miriam-gene:120892
a
ncit:C16612
.
lld:C3489791
a
ncit:C7057
.
dgn-gda:DGNd454f39f1cef2bebcd8bc9a6d8e6db7d
sio:SIO_000628
miriam-gene:120892
,
lld:C3489791
;
a
sio:SIO_001121
.
}
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_provenance
{
dgn-np:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_assertion
dcterms:description
"[We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus.]. 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:15880653
;
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:NP360112.RAN2PAe0neDKv-BvNR8LeyUBgi81SiXc1QAQVT8g0bB4U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:31+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" .
}