@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k
> .
@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:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_head
{
this:
np:hasAssertion
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_assertion
;
np:hasProvenance
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_provenance
;
np:hasPublicationInfo
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_assertion
a
np:Assertion
.
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_provenance
a
np:Provenance
.
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN5ba0c717e3d9b8e0b7b80d96a9fc39e2
sio:SIO_000628
miriam-gene:5172
,
lld:C0271829
;
a
sio:SIO_001121
.
}
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_provenance
{
dgn-np:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_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-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:NP233453.RAn5Agd6DLa1pe4dhTNO4YdiWKQ-xmSoZ_qxYUkHkQJ1k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:11+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" .
}