@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0
> .
@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/v3.0.0/void/
> .
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_head
{
this:
np:hasAssertion
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_assertion
;
np:hasProvenance
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_provenance
;
np:hasPublicationInfo
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_assertion
a
np:Assertion
.
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_provenance
a
np:Provenance
.
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_assertion
{
miriam-gene:414
a
ncit:C16612
.
lld:C0018817
a
ncit:C7057
.
dgn-gda:DGN9f3018a24a0742c0f634409a19a23e90
sio:SIO_000628
miriam-gene:414
,
lld:C0018817
;
a
sio:SIO_001121
.
}
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_provenance
{
dgn-np:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_assertion
dcterms:description
"[Several of the CGH-specific CNVs are rare in population frequency and impact previously reported ASD genes (e.g., NRXN1, GRM8, DPYD), as well as novel ASD candidate genes (e.g., CIB2, DAPP1, SAE1), and all were inherited except for a de novo CNV in the GPHN 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:23275889
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP253359.RAvsKvEk1nYgGUoQXtmLyiEPXRJGrvoRV9why331EWiL0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:04+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}