@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY
> .
@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:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_head
{
this:
np:hasAssertion
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_assertion
;
np:hasProvenance
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_assertion
a
np:Assertion
.
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_provenance
a
np:Provenance
.
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_assertion
{
miriam-gene:3988
a
ncit:C16612
.
lld:C0008384
a
ncit:C7057
.
dgn-gda:DGN7b6b5c61867b2de2589b112018b6054b
sio:SIO_000628
miriam-gene:3988
,
lld:C0008384
;
a
sio:SIO_001121
.
}
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_provenance
{
dgn-np:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_assertion
dcterms:description
"[Mutations in the LAL gene (LIPA) result in accumulation of triglycerides and cholesterol esters in various tissues of the body, leading to pathological conditions such as Wolman's disease (WD) and cholesteryl ester storage disease (CESD).]. 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:25620107
;
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:NP1258300.RAb4gv8mFvmAFkGUrR50X5ej1XJwy4x4TEixm6cwuq0hY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:16+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" .
}