@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_head
{
this:
np:hasAssertion
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_assertion
;
np:hasProvenance
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_provenance
;
np:hasPublicationInfo
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_assertion
a
np:Assertion
.
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_provenance
a
np:Provenance
.
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C0010417
a
ncit:C7057
.
dgn-gda:DGN760b49c4590a976fca6b48642d1907d3
sio:SIO_000628
miriam-gene:7490
,
lld:C0010417
;
a
sio:SIO_001121
.
}
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_provenance
{
dgn-np:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP245676.RAmjBS8ejKqjurKYsVCx_a2pIEXRmZ4VVw4L5gEA6TxMU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:37+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}