@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas
> .
@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:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_head
{
this:
np:hasAssertion
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_assertion
;
np:hasProvenance
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_provenance
;
np:hasPublicationInfo
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_assertion
a
np:Assertion
.
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_provenance
a
np:Provenance
.
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_assertion
{
miriam-gene:1056
a
ncit:C16612
.
lld:C0008384
a
ncit:C7057
.
dgn-gda:DGNe0f06c27e73dafe7b8547886daa383a0
sio:SIO_000628
miriam-gene:1056
,
lld:C0008384
;
a
sio:SIO_001121
.
}
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_provenance
{
dgn-np:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_assertion
dcterms:description
"[The molecular defects in the LIPA gene encoding the lysosomal acid lipase (LAL) were investigated in two unrelated patients 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:9367797
;
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:NP267491.RA_wwjDoS8MRUUfRpCGHomRybpWKDar4jPXs4PVvdRXas130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:29+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" .
}