@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w
> .
@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:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_head
{
this:
np:hasAssertion
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_assertion
;
np:hasProvenance
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_provenance
;
np:hasPublicationInfo
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_assertion
a
np:Assertion
.
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_provenance
a
np:Provenance
.
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0442874
a
ncit:C7057
.
dgn-gda:DGN9f5a7791836ce8683a4111368f4a20d7
sio:SIO_000628
miriam-gene:5428
,
lld:C0442874
;
a
sio:SIO_001121
.
}
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_provenance
{
dgn-np:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_assertion
dcterms:description
"[To date over 40 disease mutations and 9 nonsynonymous polymorphisms in POLG have been found to be associated with autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), Parkinsonism, and male infertility.]. 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:15913923
;
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:NP812013.RApGNQ9X3-Cb2KTi0fm4qfLptbww-ZH9so5EvNL7k4n2w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:18+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" .
}