@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ
> .
@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:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_head
{
this:
np:hasAssertion
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_assertion
;
np:hasProvenance
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_assertion
a
np:Assertion
.
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_provenance
a
np:Provenance
.
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_assertion
{
miriam-gene:1476
a
ncit:C16612
.
lld:C0027877
a
ncit:C7057
.
dgn-gda:DGN9435dd6c5e385d78d05e2bcfca3dcf27
sio:SIO_000628
miriam-gene:1476
,
lld:C0027877
;
a
sio:SIO_001121
.
}
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_provenance
{
dgn-np:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_assertion
dcterms:description
"[PME can be caused by the juvenile type of Gaucher's disease, which maps to chromosome 1q, by the juvenile type of neuronal ceroid lipofuscinoses (CLN3), which maps to chromosome 16p, and by the `cherry-red-spot-myoclonus` syndrome of Guazzi or sialidosis type I, which has been localized to chromosome 10.]. 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:8293722
;
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:NP195059.RAfOOkRf3jo1eX79H16q70qf-buNhSuBNAJc47jFIFswQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:47+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" .
}