@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE
> .
@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/v4.0.0/void/
> .
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_head
{
this:
np:hasAssertion
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_assertion
;
np:hasProvenance
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_assertion
a
np:Assertion
.
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_provenance
a
np:Provenance
.
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_assertion
{
miriam-gene:114327
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNcce866a71c2fe7b30df9a486150e31fb
sio:SIO_000628
miriam-gene:114327
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_provenance
{
dgn-np:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_assertion
dcterms:description
"[Our results demonstrate that (1) the genetic susceptibility to idiopathic absence epilepsies and broader spectra of IGEs is heterogeneous, (2) the gene effect of EJM1 depends on the familial genetic background, and (3) EJM1 confers genetic susceptibility to idiopathic absence epilepsies and broader spectra of IGEs in the presence of family members with JME.]. 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:7654068
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1316623.RA0Nh9xDJ9EdUfnwhWfkNPUXQYeUsgsK3wH0861wxv1ZE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:43+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}