@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso
> .
@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:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_head
{
this:
np:hasAssertion
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_assertion
;
np:hasProvenance
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_provenance
;
np:hasPublicationInfo
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_assertion
a
np:Assertion
.
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_provenance
a
np:Provenance
.
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C0001614
a
ncit:C7057
.
dgn-gda:DGN6a82afa0a8b4c5e37a3fa720f233edad
sio:SIO_000628
miriam-gene:2516
,
lld:C0001614
;
a
sio:SIO_001121
.
}
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_provenance
{
dgn-np:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_assertion
dcterms:description
"[These findings, which define a SF-1 mutation that apparently differentially affects its transcriptional activity in vivo in the adrenal cortex and the gonads, may be relevant to the cohort of patients who present with 46, XY sex reversal but 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:15070943
;
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:NP825120.RAe9TVwnBD20Yr2S1hFF3DE0375-zr7soQx4t9ml28xso130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:25+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" .
}