@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_head
{
this:
np:hasAssertion
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_assertion
;
np:hasProvenance
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_assertion
a
np:Assertion
.
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_provenance
a
np:Provenance
.
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0271829
a
ncit:C7057
.
dgn-gda:DGN8d2e97b9d41c8d56b4c201d6d1cbe67a
sio:SIO_000628
miriam-gene:5172
,
lld:C0271829
;
a
sio:SIO_001122
.
}
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_provenance
{
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_assertion
dct:description
"[In all the individuals harboring PDS mutations, but not in the family without PDS mutations, inner ear malformations, such as enlargement of the vestibular aqueduct and of the endolymphatic duct and sac, were documented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11919333
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP1951.RADkgEGPj8BoYxYhyJshLMCz54YBfQspUQ4bBBekldP-c130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:50+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}