@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY
> .
@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:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_head
{
this:
np:hasAssertion
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_assertion
;
np:hasProvenance
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_provenance
;
np:hasPublicationInfo
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_assertion
a
np:Assertion
.
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_provenance
a
np:Provenance
.
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_assertion
{
miriam-gene:4851
a
ncit:C16612
.
lld:C0751587
a
ncit:C7057
.
dgn-gda:DGNc6e9e7334cd2724c241f7e19b743cbec
sio:SIO_000628
miriam-gene:4851
,
lld:C0751587
;
a
sio:SIO_001121
.
}
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_provenance
{
dgn-np:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_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:NP560952.RA6TQN_Y2peGCD5Fti34l51g1sKw63HIBajkVI_5NGngY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:38+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" .
}