@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48
> .
@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:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_head
{
this:
np:hasAssertion
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion
a
np:Assertion
.
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_provenance
a
np:Provenance
.
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_assertion
{
miriam-gene:4200
a
ncit:C16612
.
lld:C0014548
a
ncit:C7057
.
dgn-gda:DGN8965496fdcc2e627727a5d3962644d2e
sio:SIO_000628
miriam-gene:4200
,
lld:C0014548
;
a
sio:SIO_001121
.
}
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_provenance
{
dgn-np:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_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:16049035
;
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:NP490061.RAjdSPTbYl32yklx0GLXQO5m4ffejyEXFlbnCOxpVzh48130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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
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"v2.1.0" .
}