@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4
> .
@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:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_head
{
this:
np:hasAssertion
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_assertion
;
np:hasProvenance
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_provenance
;
np:hasPublicationInfo
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_assertion
a
np:Assertion
.
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_provenance
a
np:Provenance
.
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_assertion
{
miriam-gene:9401
a
ncit:C16612
.
lld:C0043119
a
ncit:C7057
.
dgn-gda:DGN8f17c9e1f9e2afbed632cadbbf2d08fb
sio:SIO_000628
miriam-gene:9401
,
lld:C0043119
;
a
sio:SIO_001121
.
}
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_provenance
{
dgn-np:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_assertion
dcterms:description
"[In human cells, there exist five RecQ DNA helicases, and mutations of three of these helicases, encoded by the BLM, WRN and RECQL4 genes, give rise to the cancer predisposition disorders, Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS), respectively.]. 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:18719387
;
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:NP867032.RAExn4b_lQTX3VYb_fbRoGXS9nebI89o_Qot9kTLq7Kl4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:50+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" .
}