@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc
> .
@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:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_head
{
this:
np:hasAssertion
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_assertion
;
np:hasProvenance
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_assertion
a
np:Assertion
.
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_provenance
a
np:Provenance
.
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_assertion
{
miriam-gene:653590
a
ncit:C16612
.
lld:C0917796
a
ncit:C7057
.
dgn-gda:DGN570bf2d28baf5d9b6205759b7f0959a1
sio:SIO_000628
miriam-gene:653590
,
lld:C0917796
;
a
sio:SIO_001121
.
}
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_provenance
{
dgn-np:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_assertion
dcterms:description
"[Our findings that the frequency of the haplotype AAC, and AAT were significantly higher in the unaffected cases and the frequencies of haplotype GGT were significantly higher in LHON cases, indicate that it might have a role in the penetrance of this mitochondrial disease.]. 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:23973714
;
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:NP1104878.RA_EllI-ND_oUBYhmycjr3kxeBALoMA_cdY3JFPUoYkZc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:06+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
"v4.0.0.0" .
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pav:version
"v4.0.0" .
}