@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g
> .
@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:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_head
{
this:
np:hasAssertion
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_assertion
;
np:hasProvenance
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_provenance
;
np:hasPublicationInfo
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_assertion
a
np:Assertion
.
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_provenance
a
np:Provenance
.
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_assertion
{
miriam-gene:57575
a
ncit:C16612
.
lld:C0751778
a
ncit:C7057
.
dgn-gda:DGN824afccc3c9ce6b6a432fd8a418d0476
sio:SIO_000628
miriam-gene:57575
,
lld:C0751778
;
a
sio:SIO_001121
.
}
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_provenance
{
dgn-np:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_assertion
dcterms:description
"[They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene.]. 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:22946725
;
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:NP310265.RA9uJ-74bSzjYFcagqigk_1pHUAcwIUSzBR6QPL2g_Q3g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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" .
}