@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0
> .
@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:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_head
{
this:
np:hasAssertion
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_assertion
;
np:hasProvenance
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_provenance
;
np:hasPublicationInfo
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_assertion
a
np:Assertion
.
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_provenance
a
np:Provenance
.
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_assertion
{
miriam-gene:6609
a
ncit:C16612
.
lld:C0268243
a
ncit:C7057
.
dgn-gda:DGN784e3d6c43516e706e2c4f851ebec22b
sio:SIO_000628
miriam-gene:6609
,
lld:C0268243
;
a
sio:SIO_001121
.
}
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_provenance
{
dgn-np:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_assertion
dcterms:description
"[Given the similarity of the storage cells in NPD and Gaucher disease, we studied Gaucher plasma markers (chitotriosidase and CCL18) in two siblings homozygous for the R228C mutation in acid sphingomyelinase (ASM) and a type B course of NPD.]. 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:15702402
;
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:NP596786.RAm5bEk5rWuFRXtaU3MsXYJ1aijMARf3v0bY7a1MlQ5-0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:58+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" .
}