@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE
> .
@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:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_head
{
this:
np:hasAssertion
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion
;
np:hasProvenance
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance
;
np:hasPublicationInfo
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion
a
np:Assertion
.
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance
a
np:Provenance
.
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN00e5e54275fab2d7ed116905dccab848
sio:SIO_000628
miriam-gene:5172
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_provenance
{
dgn-np:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_assertion
dcterms:description
"[The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4.]. 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:22116369
;
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:NP941734.RAj9O0_61LYcul4glOc6qJlyjpQmtbnTJpxuZaj9AmpLE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:52+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" .
}