@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ
> .
@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:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_head
{
this:
np:hasAssertion
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_assertion
;
np:hasProvenance
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_assertion
a
np:Assertion
.
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_provenance
a
np:Provenance
.
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_assertion
{
miriam-gene:2395
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGN082597dc5bc38c1cb270bf1de0367475
sio:SIO_000628
miriam-gene:2395
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_provenance
{
dgn-np:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_assertion
dcterms:description
"[Moreover, mitochondrial dysfunction plays an important role in the pathophysiology of several well established nuclear genetic disorders, such as dominant optic atrophy (mutations in OPA1), Friedreich's ataxia (FRDA), hereditary spastic paraplegia (SPG7), and Wilson's disease (ATP7B).]. 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:12933917
;
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:NP625283.RAD6hzF4Yh33ki1xndTpRyrO7jR6V_vss0uHoW484bAkQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:17+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" .
}