@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c
> .
@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:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_head
{
this:
np:hasAssertion
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_assertion
;
np:hasProvenance
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_provenance
;
np:hasPublicationInfo
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_assertion
a
np:Assertion
.
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_provenance
a
np:Provenance
.
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_assertion
{
miriam-gene:1391
a
ncit:C16612
.
lld:C0008297
a
ncit:C7057
.
dgn-gda:DGN0a4dc3fdae385d6aa5192125ea7f88bc
sio:SIO_000628
miriam-gene:1391
,
lld:C0008297
;
a
sio:SIO_001121
.
}
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_provenance
{
dgn-np:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_assertion
dcterms:description
"[A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies.]. 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:11241468
;
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:NP939580.RAuA0oEiGQliciZnNd2Mzytk1VtFcj_Wc8E7VbWdh_h9c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:35+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" .
}