@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g
> .
@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:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_head
{
this:
np:hasAssertion
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_assertion
;
np:hasProvenance
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_provenance
;
np:hasPublicationInfo
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_assertion
a
np:Assertion
.
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_provenance
a
np:Provenance
.
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_assertion
{
miriam-gene:114327
a
ncit:C16612
.
lld:C0014548
a
ncit:C7057
.
dgn-gda:DGNc666793a0d9307a7f9b68b413819f187
sio:SIO_000628
miriam-gene:114327
,
lld:C0014548
;
a
sio:SIO_001121
.
}
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_provenance
{
dgn-np:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_assertion
dcterms:description
"[Mutations in the EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present between JME (or other generalized epilepsies) and single nucleotide polymorphisms in the BRD2 gene (unknown function) and the malic enzyme 2 (ME2) gene.]. 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:16278970
;
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:NP633737.RAQeqwhITU_oRNmTn3NiSZejtCtnkcQ0_ZJImbegYYw2g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:22+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" .
}