@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4
> .
@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:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_head
{
this:
np:hasAssertion
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_assertion
;
np:hasProvenance
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_provenance
;
np:hasPublicationInfo
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_assertion
a
np:Assertion
.
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_provenance
a
np:Provenance
.
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_assertion
{
miriam-gene:668
a
ncit:C16612
.
lld:C0265237
a
ncit:C7057
.
dgn-gda:DGN198e27ce6f297504dc7bc13c8a92d8bd
sio:SIO_000628
miriam-gene:668
,
lld:C0265237
;
a
sio:SIO_001121
.
}
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_provenance
{
dgn-np:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_assertion
dcterms:description
"[Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (POF).]. 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:18726931
;
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:NP500122.RAXHPWMVcbIBBhavS-fSnOVUqI_M4XHpPTKwvC6f4KLK4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:58+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" .
}