@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g
> .
@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:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_head
{
this:
np:hasAssertion
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_assertion
;
np:hasProvenance
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_provenance
;
np:hasPublicationInfo
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_assertion
a
np:Assertion
.
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_provenance
a
np:Provenance
.
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_assertion
{
miriam-gene:255738
a
ncit:C16612
.
lld:C1332347
a
ncit:C7057
.
dgn-gda:DGN0a8ea3687a5abba84e6818c7b3392851
sio:SIO_000628
miriam-gene:255738
,
lld:C1332347
;
a
sio:SIO_001121
.
}
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_provenance
{
dgn-np:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_assertion
dcterms:description
"[Gain-of-function mutations of PCSK9 induce ADH and are very rare, but their identification is crucial in studying PCSK9's role in hypercholesterolemia, its detailed trafficking pathway and its impact on the LDLR.]. 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:22683120
;
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:NP368976.RAEBEsS5BBeAFDyxZEOnp5M7rJTJZNVUCRqL_CIZFBi8g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:36+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" .
}