@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg
> .
@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:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_head
{
this:
np:hasAssertion
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_assertion
;
np:hasProvenance
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_provenance
;
np:hasPublicationInfo
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_assertion
a
np:Assertion
.
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_provenance
a
np:Provenance
.
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_assertion
{
miriam-gene:4976
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGN67bccf569d681b6d35afd6ecf479fba3
sio:SIO_000628
miriam-gene:4976
,
lld:C0338508
;
a
sio:SIO_001121
.
}
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_provenance
{
dgn-np:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_assertion
dcterms:description
"[To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations.]. 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:12036970
;
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:NP291437.RA9dUt8NnEsdYomO2gNGu45n4v1CmSvC2ZBDFWx1H5IDg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:45+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" .
}