@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I
> .
@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:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_head
{
this:
np:hasAssertion
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_assertion
;
np:hasProvenance
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_provenance
;
np:hasPublicationInfo
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_assertion
a
np:Assertion
.
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_provenance
a
np:Provenance
.
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_assertion
{
miriam-gene:79813
a
ncit:C16612
.
lld:C0795833
a
ncit:C7057
.
dgn-gda:DGNb71d6a94e07930278ca0f08beca48c7b
sio:SIO_000628
miriam-gene:79813
,
lld:C0795833
;
a
sio:SIO_001121
.
}
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_provenance
{
dgn-np:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_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:NP420572.RAu2yvdkNDjdhhn0amww7UakkKNR-2AMiL6WK-bmbhT-I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:09+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" .
}