@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo
> .
@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:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_head
{
this:
np:hasAssertion
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_assertion
;
np:hasProvenance
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_provenance
;
np:hasPublicationInfo
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_assertion
a
np:Assertion
.
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_provenance
a
np:Provenance
.
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_assertion
{
miriam-gene:5015
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNff9c1cd4d0b30db709f68760dddd4182
sio:SIO_000628
miriam-gene:5015
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_provenance
{
dgn-np:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_assertion
dcterms:description
"[Mutations in OTX2 have been reported in association with major developmental malformations of the eye, with retinal dystrophies such as LCA, and with pituitary dysfunction and seizure activity in some cases.]. 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:19956411
;
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:NP806982.RACjNn2X8QA7pEDIsQPsBrz5rR_P95oYtcEAEXVGXvBUo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:15+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" .
}