@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs
> .
@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:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_head
{
this:
np:hasAssertion
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_assertion
;
np:hasProvenance
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_provenance
;
np:hasPublicationInfo
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_assertion
a
np:Assertion
.
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_provenance
a
np:Provenance
.
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_assertion
{
miriam-gene:4976
a
ncit:C16612
.
lld:C0029132
a
ncit:C7057
.
dgn-gda:DGN9bf7870dd92558dd5d6b81bc47d730db
sio:SIO_000628
miriam-gene:4976
,
lld:C0029132
;
a
sio:SIO_001121
.
}
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_provenance
{
dgn-np:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_assertion
dcterms:description
"[The mutation spectrum of the OPA1 gene disclosed marked genetic heterogeneity and the mitochondrial DNA content was found to be lower in autosomal dominant optic neuropathy, which provides direct evidence for a pathogenetic role of mutations of the OPA1 gene.]. 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:15781809
;
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:NP468756.RAt-SE2fErStjqWJMnpfSOIzZATY2ZVe9efxHguCI5Abs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:41+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" .
}