@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM
> .
@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:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_head
{
this:
np:hasAssertion
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_assertion
;
np:hasProvenance
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_provenance
;
np:hasPublicationInfo
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_assertion
a
np:Assertion
.
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_provenance
a
np:Provenance
.
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_assertion
{
miriam-gene:3785
a
ncit:C16612
.
lld:C0220669
a
ncit:C7057
.
dgn-gda:DGNfe957d5804f252390c26b79838d3c004
sio:SIO_000628
miriam-gene:3785
,
lld:C0220669
;
a
sio:SIO_001121
.
}
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_provenance
{
dgn-np:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_assertion
dcterms:description
"[Potassium channels are important regulators of electrical signalling, and benign familial neonatal convulsions (BFNC), an autosomal dominant epilepsy of infancy, is caused by mutations in the KCNQ2 or the KCNQ3 potassium channel genes.]. 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:9872318
;
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:NP377728.RAJ2HnJlcnm_LIFyRsbBQynfMrDY2_ga5XEr920_8hDJM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:41+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" .
}