@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00
> .
@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:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_head
{
this:
np:hasAssertion
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_assertion
;
np:hasProvenance
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_provenance
;
np:hasPublicationInfo
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_assertion
a
np:Assertion
.
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_provenance
a
np:Provenance
.
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_assertion
{
miriam-gene:55672
a
ncit:C16612
.
lld:C0027819
a
ncit:C7057
.
dgn-gda:DGN466eaa51d3786a263885e8fec1466167
sio:SIO_000628
miriam-gene:55672
,
lld:C0027819
;
a
sio:SIO_001121
.
}
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_provenance
{
dgn-np:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_assertion
dcterms:description
"[Here, we describe the recent acquisition of the NBPF1 promoter from an unrelated gene, and remarkably, both the donor (EVI5) and acceptor (NBPF1) genes are disrupted by constitutional translocations in patients with neuroblastoma, suggesting a functional link between these genes and the disease.]. 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:19282512
;
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:NP335586.RAn1UVEclD-J8fL4wQTqPqWWdOkzQ93Wac9ErNyfm_F00130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:17+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" .
}