@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0
> .
@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:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_head
{
this:
np:hasAssertion
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion
;
np:hasProvenance
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance
;
np:hasPublicationInfo
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion
a
np:Assertion
.
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance
a
np:Provenance
.
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion
{
miriam-gene:10648
a
ncit:C16612
.
lld:C0008384
a
ncit:C7057
.
dgn-gda:DGN49dece6085acc06ef4eb5e2c63c280c5
sio:SIO_000628
miriam-gene:10648
,
lld:C0008384
;
a
sio:SIO_001121
.
}
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_provenance
{
dgn-np:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_assertion
dcterms:description
"[By integrating observations from Mendelian and population genetics along with directed clinical phenotyping, we diagnosed clinically unapparent cholesterol ester storage disease in the affected individuals from this kindred and addressed an outstanding question about risk of cardiovascular disease in LIPA E8SJM heterozygous carriers.]. 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:24072694
;
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:NP384494.RANz47ErD7DjiWO2UcdCWoRy0cdms7nwO_fz1FrOTc-M0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:49+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" .
}