@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_head
{
this:
np:hasAssertion
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_assertion
;
np:hasProvenance
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_provenance
;
np:hasPublicationInfo
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_assertion
a
np:Assertion
.
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_provenance
a
np:Provenance
.
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C1863752
a
ncit:C7057
.
dgn-gda:DGN0502ad16fc463a29d77d4a145b3dbf3f
sio:SIO_000628
miriam-gene:5730
,
lld:C1863752
;
a
sio:SIO_001121
.
}
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_provenance
{
dgn-np:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_assertion
dcterms:description
"[In order to verify this hypothesis, we surveyed mutations in the SLC26A4(PDS) gene, which were documented to cause enlarged vestibular aqueduct (EVA) and Mondini's dysplasia (incomplete partition of the cochlea), in 35 families with various types of inner ear malformations.]. 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:15905611
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP288035.RARi5BE0LTp27InV9LJTyWaSjsJzMgxLeP3MQXrYgMo_w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:44+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}