@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI
> .
@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:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_head
{
this:
np:hasAssertion
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion
;
np:hasProvenance
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion
a
np:Assertion
.
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance
a
np:Provenance
.
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion
{
miriam-gene:3988
a
ncit:C16612
.
lld:C0043208
a
ncit:C7057
.
dgn-gda:DGN3d228a4a7e02df30021f3b640337c114
sio:SIO_000628
miriam-gene:3988
,
lld:C0043208
;
a
sio:SIO_001121
.
}
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance
{
dgn-np:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion
dcterms:description
"[Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lysosomes.]. 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:9633819
;
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:NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:19+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" .
}