@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0
> .
@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:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_head
{
this:
np:hasAssertion
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_assertion
;
np:hasProvenance
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_provenance
;
np:hasPublicationInfo
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_assertion
a
np:Assertion
.
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_provenance
a
np:Provenance
.
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0018021
a
ncit:C7057
.
dgn-gda:DGN38f9fa994340bfe79f7d131d74ee2782
sio:SIO_000628
miriam-gene:5172
,
lld:C0018021
;
a
sio:SIO_001121
.
}
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_provenance
{
dgn-np:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_assertion
dcterms:description
"[Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively.]. 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:21551164
;
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:NP200103.RAtw2UqfOJuXw1HcVoMrjt0u-SJsFU7tqYAs1WCs0ltj0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}