@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI
> .
@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:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_head
{
this:
np:hasAssertion
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_assertion
;
np:hasProvenance
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_provenance
;
np:hasPublicationInfo
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_assertion
a
np:Assertion
.
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_provenance
a
np:Provenance
.
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C1691215
a
ncit:C7057
.
dgn-gda:DGN56e2b87345442cb482c8b423f33a53af
sio:SIO_000628
miriam-gene:7490
,
lld:C1691215
;
a
sio:SIO_001121
.
}
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_provenance
{
dgn-np:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_assertion
dcterms:description
"[Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified.]. 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:10022588
;
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:NP350414.RA2mtXYn307QWcqAyDPMdfgk-2ojZr9CQ6IWzXS2ZQPOI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:25+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" .
}