@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI
> .
@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/v4.0.0/void/
> .
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_head
{
this:
np:hasAssertion
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_assertion
;
np:hasProvenance
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_provenance
;
np:hasPublicationInfo
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_assertion
a
np:Assertion
.
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_provenance
a
np:Provenance
.
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_assertion
{
miriam-gene:2395
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGNd57e4b0fee1934de2d82a5594b8cad9a
sio:SIO_000628
miriam-gene:2395
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_provenance
{
dgn-np:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_assertion
dcterms:description
"[Recently identified nuclear gene mutations of mitochondrial proteins include mutations of frataxin causing Friedreich's ataxia, PINK1, DJ1 causing Parkinson's disease and POLG causing infantile mtDNA depletion syndrome, ophthalmoplegia, parkinsonism, male subfertility and, in a transgenic mouse model, premature senescence.]. 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:16815381
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP557603.RAEHmy-3FS6g5W_9qMOH-z88kqm4Lxi85pzupAQYT6HXI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:57+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: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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}