@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM
> .
@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:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_head
{
this:
np:hasAssertion
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion
;
np:hasProvenance
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance
;
np:hasPublicationInfo
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion
a
np:Assertion
.
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance
a
np:Provenance
.
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN2821cf45b6c052e2fb863b0584b06eb5
sio:SIO_000628
miriam-gene:5730
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance
{
dgn-np:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_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-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:NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:51+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" .
}