@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY
> .
@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:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_head
{
this:
np:hasAssertion
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_assertion
;
np:hasProvenance
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_provenance
;
np:hasPublicationInfo
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_assertion
a
np:Assertion
.
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_provenance
a
np:Provenance
.
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_assertion
{
miriam-gene:2629
a
ncit:C16612
.
lld:C0025517
a
ncit:C7057
.
dgn-gda:DGN23b2ee977f61f33e8f29d31d361051a9
sio:SIO_000628
miriam-gene:2629
,
lld:C0025517
;
a
sio:SIO_001121
.
}
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_provenance
{
dgn-np:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_assertion
dcterms:description
"[Gaucher disease is an inherited metabolic disease caused by the defective activity of the lysosomal enzyme, glucosylceramidase (GlcCerase), which is responsible for the last step in the degradation of complex glycosphingolipids.]. 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:23563668
;
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:NP570993.RAtJi8xDaGA4dVhGZ9g7LRHdT9_STTxUxtgvpfd9LWJjY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:44+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" .
}