@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8
> .
@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:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_head
{
this:
np:hasAssertion
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion
;
np:hasProvenance
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance
;
np:hasPublicationInfo
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion
a
np:Assertion
.
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance
a
np:Provenance
.
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C2751824
a
ncit:C7057
.
dgn-gda:DGN2ca40fab45a369da15fc578425b5e1c2
sio:SIO_000628
miriam-gene:2516
,
lld:C2751824
;
a
sio:SIO_001121
.
}
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance
{
dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion
dcterms:description
"[More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function.]. 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:18987494
;
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:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:33+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" .
}