@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw
> .
@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:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_head
{
this:
np:hasAssertion
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_assertion
;
np:hasProvenance
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_provenance
;
np:hasPublicationInfo
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_assertion
a
np:Assertion
.
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_provenance
a
np:Provenance
.
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_assertion
{
miriam-gene:4854
a
ncit:C16612
.
lld:C0018799
a
ncit:C7057
.
dgn-gda:DGNa401dd7e0c114602de7d482ed9db71a3
sio:SIO_000628
miriam-gene:4854
,
lld:C0018799
;
a
sio:SIO_001121
.
}
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_provenance
{
dgn-np:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_assertion
dcterms:description
"[Mutations in the NOTCH1 receptor are associated with several types of cardiac disease and mutations in NOTCH3 cause the dominant adult onset disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a vascular disorder with onset in the 4th or 5th decades.]. 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:22306179
;
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:NP195871.RADBpXRn1X5NUSibRUo1yTwG7r252XZtOrvvHOHHu9BSw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:48+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" .
}