@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus
> .
@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:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_head
{
this:
np:hasAssertion
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion
;
np:hasProvenance
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance
;
np:hasPublicationInfo
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion
a
np:Assertion
.
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance
a
np:Provenance
.
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion
{
miriam-gene:3988
a
ncit:C16612
.
lld:C0043208
a
ncit:C7057
.
dgn-gda:DGNe7b412b2521f38b81bb52ded1296506c
sio:SIO_000628
miriam-gene:3988
,
lld:C0043208
;
a
sio:SIO_001121
.
}
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance
{
dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion
dcterms:description
"[Wolman Disease (WD) and cholesteryl ester storage disease (CESD) represent two distinct phenotypes of the same recessive disorder caused by the complete or partial deficiency of lysosomal acidic lipase (LAL), respectively.]. 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:22227072
;
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:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:28+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" .
}