@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4
> .
@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:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_head
{
this:
np:hasAssertion
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_assertion
;
np:hasProvenance
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_provenance
;
np:hasPublicationInfo
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_assertion
a
np:Assertion
.
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_provenance
a
np:Provenance
.
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_assertion
{
miriam-gene:8181
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNf85b2a87676581ce788bc63df49e1c47
sio:SIO_000628
miriam-gene:8181
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_provenance
{
dgn-np:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_assertion
dcterms:description
"[Idiopathic single gene epilepsies include benign familial neonatal convulsions, where genetic linkage to chromosomes 20q and 8q has been found in different families, and benign familial infantile convulsions where linkage is presently unknown.]. 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:9071484
;
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:NP501525.RAe5sVCCuH03nztWLX3IzHMcYHEj74OofBFW8Pq5s5wF4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:59+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" .
}