@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4
> .
@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/v3.0.0/void/
> .
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_head
{
this:
np:hasAssertion
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_assertion
;
np:hasProvenance
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_provenance
;
np:hasPublicationInfo
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_assertion
a
np:Assertion
.
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_provenance
a
np:Provenance
.
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_assertion
{
miriam-gene:7490
a
ncit:C16612
.
lld:C2751824
a
ncit:C7057
.
dgn-gda:DGNb250e5466fd041a527fbbb0edd7efdbf
sio:SIO_000628
miriam-gene:7490
,
lld:C2751824
;
a
sio:SIO_001121
.
}
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_provenance
{
dgn-np:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_assertion
dcterms:description
"[The design of the study was: 1) sequencing of the WT1 gene in 210 patients with 46,XY DSD from the German DSD network, consisting of 150 males with severe hypospadias (70 without cryptorchidism, 80 with at least one cryptorchid testis), 10 males with vanishing testes syndrome, and 50 raised females with partial to complete 46,XY gonadal dysgenesis; and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations.]. 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:21508141
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP778580.RAbBipj74XHopSN8tJHRd2khJ4JDv-yPGBZo2c0K48rU4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:31+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}