@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ
> .
@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:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_head
{
this:
np:hasAssertion
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_assertion
;
np:hasProvenance
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_assertion
a
np:Assertion
.
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_provenance
a
np:Provenance
.
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_assertion
{
miriam-gene:1861
a
ncit:C16612
.
lld:C0026650
a
ncit:C7057
.
dgn-gda:DGN313d6f7756c0efd79f96db59fce29747
sio:SIO_000628
miriam-gene:1861
,
lld:C0026650
;
a
sio:SIO_001121
.
}
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_provenance
{
dgn-np:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_assertion
dcterms:description
"[A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs.]. 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:19457118
;
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:NP518288.RAgJ-fn61FHpiSCHbUUoeabO4ubSee2DwjTRFrQM1XQCQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:08+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" .
}