@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE
> .
@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:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_head
{
this:
np:hasAssertion
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_assertion
;
np:hasProvenance
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_provenance
;
np:hasPublicationInfo
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_assertion
a
np:Assertion
.
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_provenance
a
np:Provenance
.
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0280100
a
ncit:C7057
.
dgn-gda:DGNcaf46f47e5aa74db925c5649fac90819
sio:SIO_000628
miriam-gene:5781
,
lld:C0280100
;
a
sio:SIO_001121
.
}
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_provenance
{
dgn-np:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_assertion
dcterms:description
"[The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan 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:18328949
;
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:NP515194.RAC-5Qxm7h5OZ3RYe08FfHzyYiryFDDFZaV-CZ0qUTkEE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:07+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" .
}