@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw
> .
@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:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_head
{
this:
np:hasAssertion
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_assertion
;
np:hasProvenance
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_provenance
;
np:hasPublicationInfo
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_assertion
a
np:Assertion
.
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_provenance
a
np:Provenance
.
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_assertion
{
miriam-gene:255738
a
ncit:C16612
.
lld:C1332347
a
ncit:C7057
.
dgn-gda:DGN287afbb679c793e33b3d43161499089b
sio:SIO_000628
miriam-gene:255738
,
lld:C1332347
;
a
sio:SIO_001121
.
}
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_provenance
{
dgn-np:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_assertion
dcterms:description
"[Our discovery in 2003 of the first mutations of PCSK9 gene causing autosomal dominant hypercholesterolaemia (ADH) shed light on an unknown factor that strongly influences the level of circulating low density lipoprotein cholesterol (LDL-C).]. 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:18708425
;
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:NP333183.RApeKt9d-uKPIHrvRWqnGBEk_yp11OHV56_C4EPCFhGxw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:16+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" .
}