@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_assertion
;
np:hasProvenance
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_provenance
;
np:hasPublicationInfo
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_assertion
a
np:Assertion
.
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_provenance
a
np:Provenance
.
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_assertion
{
miriam-gene:388939
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGNdbb10befa281f52960087469793cd891
sio:SIO_000628
miriam-gene:388939
,
lld:C0035334
;
a
sio:SIO_001121
.
}
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_provenance
{
dgn-np:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_assertion
dcterms:description
"[Further analysis will determine the spectrum of retinal disease caused by mutations in C2ORF71 and distinguish true pathogenic alleles from the high background of polymorphism elucidating the role of this rare cause of RP in the visual process.]. 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:20811058
;
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:NP436281.RAClIZXi_6wV-jII27RpouSZoLRPYtG3CfVFOiWRpuq9c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:18+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" .
}