@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE
> .
@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:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_head
{
this:
np:hasAssertion
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_assertion
;
np:hasProvenance
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_provenance
;
np:hasPublicationInfo
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_assertion
a
np:Assertion
.
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_provenance
a
np:Provenance
.
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C3502809
a
ncit:C7057
.
dgn-gda:DGN77cc33d501851a36b61b9c928b7f07d0
sio:SIO_000628
miriam-gene:146
,
lld:C3502809
;
a
sio:SIO_001121
.
}
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_provenance
{
dgn-np:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_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:NP414274.RAGGpzOLUu8FXpvy1fO-RGZfRNyjOJGqZG7x3LDfLX9oE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:06+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" .
}