@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI
> .
@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:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_head
{
this:
np:hasAssertion
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_assertion
;
np:hasProvenance
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_provenance
;
np:hasPublicationInfo
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_assertion
a
np:Assertion
.
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_provenance
a
np:Provenance
.
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C0009952
a
ncit:C7057
.
dgn-gda:DGN934ff26165aff9cf5ab59f941a786d88
sio:SIO_000628
miriam-gene:112476
,
lld:C0009952
;
a
sio:SIO_001121
.
}
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_provenance
{
dgn-np:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_assertion
dcterms:description
"[The association of PKD and hemiplegic migraine has been previously reported in one large family, associated to febrile convulsions and afebrile seizures in some individuals, but our report relates this association of symptoms to a mutation in PRRT2.]. 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:23182655
;
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:NP888472.RAvR5tsCtGMFsqh1kp6bNGEhro-rCwcRiUrOfvXIRSKlI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:06+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" .
}