@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc
> .
@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:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_head
{
this:
np:hasAssertion
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_assertion
;
np:hasProvenance
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_provenance
;
np:hasPublicationInfo
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_assertion
a
np:Assertion
.
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_provenance
a
np:Provenance
.
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C3711374
a
ncit:C7057
.
dgn-gda:DGN9cb21194cbedeffda72861b74054b5a5
sio:SIO_000628
miriam-gene:5730
,
lld:C3711374
;
a
sio:SIO_001122
.
}
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_provenance
{
dgn-np:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_assertion
dcterms:description
"[Mutations in the PDS (SLC26A4) gene are known to be responsible for both Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct, and the molecular confirmation of the PDS gene has become important in the diagnosis of these conditions.]. 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:14508505
;
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:NP414494.RAZDLk7JQBI_izTO8LS2G-kTF6RA9Xatf0i7TRMXBQgLc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:53+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" .
}