@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw
> .
@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/v3.0.0/void/
> .
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_head
{
this:
np:hasAssertion
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_assertion
;
np:hasProvenance
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_provenance
;
np:hasPublicationInfo
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_assertion
a
np:Assertion
.
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_provenance
a
np:Provenance
.
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_assertion
{
miriam-gene:6609
a
ncit:C16612
.
lld:C0017205
a
ncit:C7057
.
dgn-gda:DGN0560e0ef3bf51894c89e26bc312bb9c6
sio:SIO_000628
miriam-gene:6609
,
lld:C0017205
;
a
sio:SIO_001122
.
}
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_provenance
{
dgn-np:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP704110.RASYj90hvLMwMpY2MtYcZKRrsHQWGGtCDEZyF9aSVDrtw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:44+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}