@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g
> .
@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:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_head
{
this:
np:hasAssertion
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_assertion
;
np:hasProvenance
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_provenance
;
np:hasPublicationInfo
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_assertion
a
np:Assertion
.
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_provenance
a
np:Provenance
.
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_assertion
{
miriam-gene:2969
a
ncit:C16612
.
lld:C0679466
a
ncit:C7057
.
dgn-gda:DGNb152acb8400a660c92514d6ed36c4786
sio:SIO_000628
miriam-gene:2969
,
lld:C0679466
;
a
sio:SIO_001121
.
}
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_provenance
{
dgn-np:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_assertion
dcterms:description
"[Vascular stenoses are caused by haploinsufficiency at the elastin gene, while the genes responsible for the cognitive deficits are likely located at the telomeric edge of the deletion, including CYLN2 and GTF2I.]. 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:12638521
;
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:NP309985.RAD8Ee1dluoW86ZpDxByyV1X2xhbSHvSB3ebS15mt6e5g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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" .
}