@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8
> .
@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:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_head
{
this:
np:hasAssertion
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_assertion
;
np:hasProvenance
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_provenance
;
np:hasPublicationInfo
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_assertion
a
np:Assertion
.
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_provenance
a
np:Provenance
.
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_assertion
{
miriam-gene:2290
a
ncit:C16612
.
lld:C0338656
a
ncit:C7057
.
dgn-gda:DGNd597581ef2effc55c0dbb073f43f5d09
sio:SIO_000628
miriam-gene:2290
,
lld:C0338656
;
a
sio:SIO_001121
.
}
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_provenance
{
dgn-np:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_assertion
dcterms:description
"[Over the last several years, intragenic or genomic alterations of the CDKL5 and FOXG1 genes have been associated with severe cognitive impairment, early onset epilepsy and, often, dyskinetic movement disorders, which have variably been defined as Rett variants.]. 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:22998673
;
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:NP316159.RAoDhxDom1oYsiLkHEFXvGfHH0OulR0A9JWyogLf0Zrl8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:01+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" .
}