@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs
> .
@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:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_head
{
this:
np:hasAssertion
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_assertion
;
np:hasProvenance
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_provenance
;
np:hasPublicationInfo
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_assertion
a
np:Assertion
.
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_provenance
a
np:Provenance
.
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGNc973136c13bcbe5f45ba6cf13484471e
sio:SIO_000628
miriam-gene:146
,
lld:C0751122
;
a
sio:SIO_001121
.
}
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_provenance
{
dgn-np:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_assertion
dcterms:description
"[Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+).]. 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:14504318
;
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:NP559611.RAuqZJ_BTUY7aCdonhsB4ZPoNYXmAk1GZ8eNhULm9glGs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:37+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" .
}