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http://rdf.disgenet.org/nanopublications.trig#NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
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dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_assertion
a
np:Assertion
.
dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_provenance
a
np:Provenance
.
dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:5080
a
ncit:C16612
.
lld:C1848140
a
ncit:C7057
.
dgn-gda:DGNa321e190a266c6fdd25821394d3be2c9
sio:SIO_000628
miriam-gene:5080
,
lld:C1848140
;
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.
}
dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_provenance
{
dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_assertion
dcterms:description
"[We used magnetic resonance imaging (MRI) to show that individuals with aniridia and deficits in executive and social cognition, due to heterozygous mutation of the neurodevelopmental control gene PAX6, have structural abnormalities of grey matter in anterior cingulate cortex, cerebellum and medial temporal lobe, as well as white matter deficits in corpus callosum.]. 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:15066147
;
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 .
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dgn-np:NP615528.RATL5TeW8gxCqFxslE7KY5jVdyTjW9ZANOOhTklMHo2dE130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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