@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8
> .
@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:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_head
{
this:
np:hasAssertion
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_assertion
;
np:hasProvenance
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_provenance
;
np:hasPublicationInfo
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_assertion
a
np:Assertion
.
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_provenance
a
np:Provenance
.
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_assertion
{
miriam-gene:6324
a
ncit:C16612
.
lld:C0014548
a
ncit:C7057
.
dgn-gda:DGNfff9c838eec19696e0d3dadbaeefdde0
sio:SIO_000628
miriam-gene:6324
,
lld:C0014548
;
a
sio:SIO_001121
.
}
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_provenance
{
dgn-np:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_assertion
dcterms:description
"[Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in CHRNA4, benign familial neonatal convulsions by mutations in KCNQ2 and KCNQ3, and generalised epilepsy with febrile seizures plus by mutations in SCN1B.]. 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:10896263
;
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:NP248101.RAXOAFD47MNkjHLRSf2LYHPaYx1-Wmxx9bLx3iI0tDEF8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:18+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" .
}