@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY
> .
@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:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_head
{
this:
np:hasAssertion
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion
;
np:hasProvenance
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance
;
np:hasPublicationInfo
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion
a
np:Assertion
.
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance
a
np:Provenance
.
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion
{
miriam-gene:7466
a
ncit:C16612
.
lld:C0029124
a
ncit:C7057
.
dgn-gda:DGN54a7ae92a3621ff5593d228f688f86cb
sio:SIO_000628
miriam-gene:7466
,
lld:C0029124
;
a
sio:SIO_001121
.
}
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance
{
dgn-np:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion
dcterms:description
"[Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities.]. 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:16648378
;
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:NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:55+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" .
}