@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM
> .
@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:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_head
{
this:
np:hasAssertion
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_assertion
;
np:hasProvenance
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_assertion
a
np:Assertion
.
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_provenance
a
np:Provenance
.
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C3711374
a
ncit:C7057
.
dgn-gda:DGN1fab1964a4e2ba38791e3218f073eeb8
sio:SIO_000628
miriam-gene:5172
,
lld:C3711374
;
a
sio:SIO_001121
.
}
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_provenance
{
dgn-np:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_assertion
dcterms:description
"[Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA), 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss.]. 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:25372295
;
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:NP1235233.RAK2eBCYHDAEeXL9UvWlcoJ076TYF2tIfqc0ROYou1urM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:06+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" .
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pav:version
"v4.0.0" .
}