@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8
> .
@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:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_head
{
this:
np:hasAssertion
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_assertion
;
np:hasProvenance
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_provenance
;
np:hasPublicationInfo
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_assertion
a
np:Assertion
.
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_provenance
a
np:Provenance
.
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_assertion
{
miriam-gene:1716
a
ncit:C16612
.
lld:C0342782
a
ncit:C7057
.
dgn-gda:DGN01c8fbf94b422450ec09a5f71a225ff4
sio:SIO_000628
miriam-gene:1716
,
lld:C0342782
;
a
sio:SIO_001121
.
}
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_provenance
{
dgn-np:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_assertion
dcterms:description
"[Mitochondrial DNA depletion is caused by germline deletions and duplications of segments within the mtDNA as well as germline mutations in the nuclear genes responsible for mtDNA duplication (the polymerase apparatus including POLG, POLG2 and PEO1) and mtDNA maintenance (those genes that regulate the deoxynucleotide triphosphate pools and other functions including TP1, TK2, DGUOK, SUCLA1, SUCLA2, ANT1, RRM2B and MPV17).]. 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:20558295
;
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:NP178959.RAeRxE8adK2ydhJWfKXu-l71zDaYeFybaPW3G01GXJfe8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:37+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" .
}