@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4
> .
@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:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_head
{
this:
np:hasAssertion
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_assertion
;
np:hasProvenance
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_provenance
;
np:hasPublicationInfo
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_assertion
a
np:Assertion
.
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_provenance
a
np:Provenance
.
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_assertion
{
miriam-gene:1391
a
ncit:C16612
.
lld:C0342200
a
ncit:C7057
.
dgn-gda:DGNf347c4691be8b0c28f496761ad035d12
sio:SIO_000628
miriam-gene:1391
,
lld:C0342200
;
a
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.
}
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_provenance
{
dgn-np:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_assertion
dcterms:description
"[We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).]. 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:2051459
;
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:NP596937.RADwNQazd2WCZJdHjSrKTVJIfEJeS-1ZXLrRkL9W5V7c4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:58+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
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dgn-void:disgenetrdf
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"v2.1.0" .
}