@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E
> .
@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:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_head
{
this:
np:hasAssertion
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_assertion
;
np:hasProvenance
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_provenance
;
np:hasPublicationInfo
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_assertion
a
np:Assertion
.
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_provenance
a
np:Provenance
.
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_assertion
{
miriam-gene:79813
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNf17d2013a93dcd4500c8633aa34fa2b0
sio:SIO_000628
miriam-gene:79813
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_provenance
{
dgn-np:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_assertion
dcterms:description
"[Kleefstra syndrome (KS), is caused by haploinsufficiency of the EHMT1 gene, and is an example of an emerging group of intellectual disability (ID) disorders caused by genes encoding epigenetic regulators of neuronal gene activity.]. 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:23175442
;
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:NP818611.RAU30VNm27gciqes1U3lGMuSTtCB22GrWzYRTIanpI91E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:21+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" .
}