@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c
> .
@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:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_head
{
this:
np:hasAssertion
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_assertion
;
np:hasProvenance
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_assertion
a
np:Assertion
.
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_provenance
a
np:Provenance
.
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0009952
a
ncit:C7057
.
dgn-gda:DGNfeff1ee1bcde111bf89f43da7fdbb915
sio:SIO_000628
miriam-gene:6323
,
lld:C0009952
;
a
sio:SIO_001121
.
}
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_provenance
{
dgn-np:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_assertion
dcterms:description
"[Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel.]. 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:23773995
;
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:NP1086626.RAIR3FIEIqceFeHKfUHq57krzh4j8EO0jiP8KPHqkdM-c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:58+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: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" .
}