@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE
> .
@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:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_head
{
this:
np:hasAssertion
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_assertion
;
np:hasProvenance
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_provenance
;
np:hasPublicationInfo
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_assertion
a
np:Assertion
.
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_provenance
a
np:Provenance
.
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_assertion
{
miriam-gene:54790
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGNd966a0a0b625d5f9a442bc7be2240d4d
sio:SIO_000628
miriam-gene:54790
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_provenance
{
dgn-np:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_assertion
dcterms:description
"[The severe mitochondrial DNA depletion syndrome (MDS) has been associated with mutations in TK2, resulting in mtDNA depletion, isolated skeletal myopathy, and death of the individual at an early stage of life.]. 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:22571666
;
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:NP398265.RA1IEcvpXFihpfN5LKb4AW4vr01Ov2hfzvYQGpkUfsrUE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:57+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" .
}