@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18
> .
@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:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_head
{
this:
np:hasAssertion
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_assertion
;
np:hasProvenance
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_provenance
;
np:hasPublicationInfo
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_assertion
a
np:Assertion
.
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_provenance
a
np:Provenance
.
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C0036875
a
ncit:C7057
.
dgn-gda:DGN01250231ce40a05732f3852bb7ee3ef4
sio:SIO_000628
miriam-gene:2516
,
lld:C0036875
;
a
sio:SIO_001121
.
}
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_provenance
{
dgn-np:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_assertion
dcterms:description
"[Mutations identified by NR5A1 sequencing have been associated with disorders of sex development (DSD), ranging from sex reversal to severe hypospadias in 46,XY patients and premature ovarian failure (POF) in 46,XX patients.]. 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:23918653
;
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:NP1099839.RALQrW6O-p5zA7itdZBBynCjan3AjlmlXXCTEEVuixQ18130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:04+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" .
}