@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU
> .
@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:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_head
{
this:
np:hasAssertion
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_assertion
;
np:hasProvenance
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_provenance
;
np:hasPublicationInfo
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_assertion
a
np:Assertion
.
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_provenance
a
np:Provenance
.
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_assertion
{
miriam-gene:9401
a
ncit:C16612
.
lld:C0231341
a
ncit:C7057
.
dgn-gda:DGNade4658f1185368d98c43f9282ac7125
sio:SIO_000628
miriam-gene:9401
,
lld:C0231341
;
a
sio:SIO_001121
.
}
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_provenance
{
dgn-np:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_assertion
dcterms:description
"[Genetic defects in three of the five human RecQ helicases, BLM, WRN and RECQ4, give rise to defined syndromes associated with cancer predisposition, some features of premature ageing and chromosomal instability.]. 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:19657341
;
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:NP424372.RAMLfWhG3O2FjKi2D8m2VAQWs6rrW89OpS0ZYJrJO1lZU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:12+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" .
}