@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_head
{
this:
np:hasAssertion
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion
;
np:hasProvenance
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance
;
np:hasPublicationInfo
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion
a
np:Assertion
.
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance
a
np:Provenance
.
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_assertion
{
miriam-gene:114327
a
ncit:C16612
.
lld:C0270853
a
ncit:C7057
.
dgn-gda:DGNd5c495f197ddf9f8c00ec5a24b4363c3
sio:SIO_000628
miriam-gene:114327
,
lld:C0270853
;
a
sio:SIO_001121
.
}
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_provenance
{
dgn-np:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP521990.RAdgdkv5y_r-W4ZFHX7_TVetHnfK6WAgG5ekIxOgx1fNg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:41+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}