@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA
> .
@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:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_head
{
this:
np:hasAssertion
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion
;
np:hasProvenance
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance
;
np:hasPublicationInfo
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion
a
np:Assertion
.
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance
a
np:Provenance
.
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion
{
miriam-gene:3988
a
ncit:C16612
.
lld:C0008384
a
ncit:C7057
.
dgn-gda:DGN0a244af52a3e5e23ae5840e70de02572
sio:SIO_000628
miriam-gene:3988
,
lld:C0008384
;
a
sio:SIO_001121
.
}
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_provenance
{
dgn-np:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_assertion
dcterms:description
"[The molecular defects in the gene encoding the lysosomal acid lipase (LAL) were investigated in an adult male patient affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL deficient activity.]. 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:9554751
;
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:NP306646.RAwB7RsukHbI15KlUzsBT82EbqQgKHSUhcw3e4Gpin1zA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:56+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" .
}