@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4
> .
@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:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_head
{
this:
np:hasAssertion
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_assertion
;
np:hasProvenance
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_provenance
;
np:hasPublicationInfo
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_assertion
a
np:Assertion
.
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_provenance
a
np:Provenance
.
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_assertion
{
miriam-gene:7399
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGN7de36d8360ba4885af392d8427bd86ba
sio:SIO_000628
miriam-gene:7399
,
lld:C0018784
;
a
sio:SIO_001121
.
}
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_provenance
{
dgn-np:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_assertion
dcterms:description
"[The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP).]. 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:14970843
;
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:NP213325.RA8r-2ywpi5tbTuDxLviYeOPF4zMp9EZ_UXvhwbXIEga4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:58+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" .
}