@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og
> .
@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:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_head
{
this:
np:hasAssertion
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_assertion
;
np:hasProvenance
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_provenance
;
np:hasPublicationInfo
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_assertion
a
np:Assertion
.
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_provenance
a
np:Provenance
.
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_assertion
{
miriam-gene:1593
a
ncit:C16612
.
lld:C0027765
a
ncit:C7057
.
dgn-gda:DGNada8a85a2590d7a9e6ec8b3878e8fcf0
sio:SIO_000628
miriam-gene:1593
,
lld:C0027765
;
a
sio:SIO_001121
.
}
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_provenance
{
dgn-np:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_assertion
dcterms:description
"[In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological 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:20466796
;
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:NP439605.RAw-LV8CHzYfQVnSqDAaUKQ6Sg9MVATac5I9QVsJLI5og130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:20+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" .
}