@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_head
{
this:
np:hasAssertion
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion
;
np:hasProvenance
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance
;
np:hasPublicationInfo
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion
a
np:Assertion
.
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance
a
np:Provenance
.
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion
{
miriam-gene:5015
a
ncit:C16612
.
lld:C0339527
a
ncit:C7057
.
dgn-gda:DGN6b310f2c5c8133ba7a6a54d59212d9e6
sio:SIO_000628
miriam-gene:5015
,
lld:C0339527
;
a
sio:SIO_001121
.
}
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance
{
dgn-np:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:38+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}