@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas
> .
@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:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_head
{
this:
np:hasAssertion
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_assertion
;
np:hasProvenance
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_provenance
;
np:hasPublicationInfo
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_assertion
a
np:Assertion
.
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_provenance
a
np:Provenance
.
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_assertion
{
miriam-gene:317714
a
ncit:C16612
.
lld:C0013421
a
ncit:C7057
.
dgn-gda:DGNc3708bd9c8b6a8375e3ec66c9580a2a5
sio:SIO_000628
miriam-gene:317714
,
lld:C0013421
;
a
sio:SIO_001121
.
}
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_provenance
{
dgn-np:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_assertion
dcterms:description
"[Deletion of 2 known dystonia loci on chromosome 18p, DYT7 and DYT15, or the deletion of another dystonia gene just above the centromere of chromosome 18p may be the cause of dystonia in patients with the 18p deletion syndrome.]. 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:19699028
;
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:NP813885.RAqndOwv8J7xWEE0mf_Gu-gPCcPS4Q_tz-EftvBFEAVas130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:19+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" .
}