@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc
> .
@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:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_head
{
this:
np:hasAssertion
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_assertion
;
np:hasProvenance
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_provenance
;
np:hasPublicationInfo
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_assertion
a
np:Assertion
.
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_provenance
a
np:Provenance
.
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_assertion
{
miriam-gene:7466
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGN0e2fd88497c1141d6df4d381a1ba8504
sio:SIO_000628
miriam-gene:7466
,
lld:C0018784
;
a
sio:SIO_001121
.
}
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_provenance
{
dgn-np:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_assertion
dcterms:description
"[An LFSNHL locus has recently been assigned to chromosome 4p16, and mutations in WFS1, the causative gene for Wolfram syndrome, have been found to cause LFSNHL in families with DFNA6, DFNA14, or DFNA38.]. 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:12181639
;
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:NP300346.RAdugI3S2tmuGNhW91VmWkF4A5W91oQPZ7XedplwqTBDc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:50+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" .
}