@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs
> .
@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:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_head
{
this:
np:hasAssertion
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_assertion
;
np:hasProvenance
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_provenance
;
np:hasPublicationInfo
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_assertion
a
np:Assertion
.
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_provenance
a
np:Provenance
.
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C3711374
a
ncit:C7057
.
dgn-gda:DGN448216d88761d581f9bb3cbab6f362e7
sio:SIO_000628
miriam-gene:5172
,
lld:C3711374
;
a
sio:SIO_001122
.
}
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_provenance
{
dgn-np:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_assertion
dcterms:description
"[It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA).]. 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:17443271
;
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:NP605372.RAWxqI6V1I6cAP6xr7uxQTvvxpfsU2TpkHLc1V_pdAWSs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:20+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" .
}