@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E
> .
@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:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_head
{
this:
np:hasAssertion
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_assertion
;
np:hasProvenance
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_provenance
;
np:hasPublicationInfo
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_assertion
a
np:Assertion
.
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_provenance
a
np:Provenance
.
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGNbf378258343ae5aa2799b540935070dc
sio:SIO_000628
miriam-gene:5730
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_provenance
{
dgn-np:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_assertion
dcterms:description
"[Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in patients presenting with deafness and vestibular aqueduct dilatation only, without other features of Pendred syndrome.]. 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:10700480
;
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:NP900688.RASywVmCvSQthkiFPbDGWQSZ6pwte3D9v0Ph32nxF_X6E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:13+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" .
}