@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_head
{
this:
np:hasAssertion
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_assertion
;
np:hasProvenance
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_provenance
;
np:hasPublicationInfo
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_assertion
a
np:Assertion
.
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_provenance
a
np:Provenance
.
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGNe4a785777f15bbb247317ee3f1e0d217
sio:SIO_000628
miriam-gene:5172
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_provenance
{
dgn-np:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_assertion
dcterms:description
"[A possible association with Pendred syndrome needs to be confirmed by genetic investigations with search for mutations in the SLC26A4 gene and further clinical tests, such as Perchlorate test for surveillance of thyroid function.]. 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:24429823
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1145357.RASAqAgfvphrJ2Vu5AkEmR1DdKrtNcUiFB069v323joks130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:25+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}