@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_head
{
this:
np:hasAssertion
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion
;
np:hasProvenance
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance
;
np:hasPublicationInfo
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion
a
np:Assertion
.
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance
a
np:Provenance
.
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_assertion
{
miriam-gene:9968
a
ncit:C16612
.
lld:C0037773
a
ncit:C7057
.
dgn-gda:DGNdbab57b0aa9302d61d4ccfc5fd798631
sio:SIO_000628
miriam-gene:9968
,
lld:C0037773
;
a
sio:SIO_001121
.
}
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_provenance
{
dgn-np:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP833500.RANsKdeJW2BTZoRHA3IOC7R1IxJAffQQOfJBFRkb-jOLA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:06+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}