@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M
> .
@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:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_head
{
this:
np:hasAssertion
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_assertion
;
np:hasProvenance
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_provenance
;
np:hasPublicationInfo
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_assertion
a
np:Assertion
.
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_provenance
a
np:Provenance
.
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_assertion
{
miriam-gene:6121
a
ncit:C16612
.
lld:C0042798
a
ncit:C7057
.
dgn-gda:DGNd0d91b46b6f36f8f6fe811c19bfdf66f
sio:SIO_000628
miriam-gene:6121
,
lld:C0042798
;
a
sio:SIO_001121
.
}
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_provenance
{
dgn-np:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_assertion
dcterms:description
"[Mutations in the retinal pigment epithelium gene encoding RPE65 cause an early onset autosomal recessive form of human retinitis pigmentosa, known as Leber congenital amaurosis (LCA), which results in blindness or severely impaired vision in children.]. 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:15765048
;
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:NP360868.RAUAHESTuFMA3Y2LlzXVclEIkxpxnDm9lxArLmbPMCO9M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:31+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" .
}