@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY
> .
@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:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_head
{
this:
np:hasAssertion
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_assertion
;
np:hasProvenance
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_provenance
;
np:hasPublicationInfo
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_assertion
a
np:Assertion
.
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_provenance
a
np:Provenance
.
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C0036875
a
ncit:C7057
.
dgn-gda:DGNb89f9869868d86ca9b35c2c8a391c3bc
sio:SIO_000628
miriam-gene:2516
,
lld:C0036875
;
a
sio:SIO_001121
.
}
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_provenance
{
dgn-np:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_assertion
dcterms:description
"[NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI).]. 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:22549935
;
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:NP507232.RA9Q9fK68-A_uPt-xjfxB9DcOwmBvORDEYUobPHFZNTAY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:02+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" .
}