@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg
> .
@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:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_head
{
this:
np:hasAssertion
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion
;
np:hasProvenance
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion
a
np:Assertion
.
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance
a
np:Provenance
.
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020443
a
ncit:C7057
.
dgn-gda:DGNeb3e94563490ccf2a19997099b362c6a
sio:SIO_000628
miriam-gene:3949
,
lld:C0020443
;
a
sio:SIO_001121
.
}
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_provenance
{
dgn-np:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_assertion
dcterms:description
"[The diagnosis of heterozygous familial hypercholesterolaemia in three rural South African communities in which hypercholesterolaemia is very prevalent could be confirmed by the measurement of low density lipoprotein (LDL) receptor activity in circulating lymphocytes.]. 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:2918524
;
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:NP1298439.RAoddIh_QnGFJbgk3n5m36T3uomWM0ahtXCkKqy9dMkdg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:34+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" .
}