@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY
> .
@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:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_head
{
this:
np:hasAssertion
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_assertion
;
np:hasProvenance
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_provenance
;
np:hasPublicationInfo
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_assertion
a
np:Assertion
.
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_provenance
a
np:Provenance
.
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_assertion
{
miriam-gene:6324
a
ncit:C16612
.
lld:C3502809
a
ncit:C7057
.
dgn-gda:DGNe36bf1cbd7bdaeef8ea556c3cf2f5169
sio:SIO_000628
miriam-gene:6324
,
lld:C3502809
;
a
sio:SIO_001121
.
}
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_provenance
{
dgn-np:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_assertion
dcterms:description
"[The voltage-gated sodium channel subunits SCN1B, SCN1A and SCN2A as well as the GABRG2 subunit of the GABA(A) receptor are involved in the pathology of the newly described syndrome generalized epilepsy with febrile seizures plus.]. 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:11888238
;
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:NP685368.RAOxIrgNHYnFRDhZ9uRVBE440KCFR0lZ9sKEPfJ2bWkxY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:56+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" .
}