@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0
> .
@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:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_head
{
this:
np:hasAssertion
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_assertion
;
np:hasProvenance
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_provenance
;
np:hasPublicationInfo
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_assertion
a
np:Assertion
.
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_provenance
a
np:Provenance
.
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0039273
a
ncit:C7057
.
dgn-gda:DGN4d369c17006794991e2169723633f3ca
sio:SIO_000628
miriam-gene:5376
,
lld:C0039273
;
a
sio:SIO_001121
.
}
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_provenance
{
dgn-np:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_assertion
dcterms:description
"[The 29-year-old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy (pes cavus, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (SNAPs).]. 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:23279344
;
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:NP220626.RAJE1BTJ22-kgHXGLxIooAcIBAGnfIcnQSuVmzzc5wvR0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:02+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" .
}