@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI
> .
@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:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_head
{
this:
np:hasAssertion
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_assertion
;
np:hasProvenance
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_provenance
;
np:hasPublicationInfo
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_assertion
a
np:Assertion
.
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_provenance
a
np:Provenance
.
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_assertion
{
miriam-gene:80184
a
ncit:C16612
.
lld:C0917796
a
ncit:C7057
.
dgn-gda:DGNb5cad90489212fccac8342cd0642e3f6
sio:SIO_000628
miriam-gene:80184
,
lld:C0917796
;
a
sio:SIO_001121
.
}
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_provenance
{
dgn-np:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_assertion
dcterms:description
"[Mutations in the gene centrosomal protein 290 kDa (CEP290) cause an array of debilitating and phenotypically distinct human diseases, ranging from the devastating blinding disease Leber congenital amaurosis (LCA) to Senior-Løken syndrome, Joubert syndrome, and the lethal Meckel-Gruber syndrome.]. 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:24051377
;
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:NP413023.RAA9rV8ESi7AQ_P-T-I8kGnus1mgjxQXWSMG4BP9cysgI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:05+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" .
}