@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28
> .
@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 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:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_head
{
this:
np:hasAssertion
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_assertion
;
np:hasProvenance
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_provenance
;
np:hasPublicationInfo
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_assertion
a
np:Assertion
.
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_provenance
a
np:Provenance
.
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_assertion
{
miriam-gene:57492
a
ncit:C16612
.
lld:C0265338
a
ncit:C7057
.
dgn-gda:DGN7d6ee0cf4a1f5f4cebc5303fa70b362e
sio:SIO_000628
miriam-gene:57492
,
lld:C0265338
;
a
sio:SIO_001121
.
}
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_provenance
{
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_assertion
dc:description
"[Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:22426309
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP9168.RAbM-oafjo8ibDB_GnGeDiL_qM5qlOhfhPMxW-XdsTr28130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:02+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}