@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE
> .
@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:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_head
{
this:
np:hasAssertion
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_assertion
;
np:hasProvenance
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_provenance
;
np:hasPublicationInfo
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_assertion
a
np:Assertion
.
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_provenance
a
np:Provenance
.
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_assertion
{
miriam-gene:6928
a
ncit:C16612
.
lld:C0005745
a
ncit:C7057
.
dgn-gda:DGN409ec12d48cd4d00413daec7e432cec8
sio:SIO_000628
miriam-gene:6928
,
lld:C0005745
;
a
sio:SIO_001121
.
}
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_provenance
{
dgn-np:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_assertion
dcterms:description
"[Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene.]. 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:15450400
;
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:NP448244.RAl7WOO1uLa1V1Siu0TJ3AwPv7MEoxCprDf2_k9whHuuE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:27+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" .
}