@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_head
{
this:
np:hasAssertion
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_assertion
;
np:hasProvenance
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_provenance
;
np:hasPublicationInfo
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_assertion
a
np:Assertion
.
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_provenance
a
np:Provenance
.
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_assertion
{
miriam-gene:7399
a
ncit:C16612
.
lld:C1848634
a
ncit:C7057
.
dgn-gda:DGN8530e70ce03fb529d50cc52f7775ef94
sio:SIO_000628
miriam-gene:7399
,
lld:C1848634
;
a
sio:SIO_001122
.
}
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_provenance
{
dgn-np:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_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_curated
;
sio:SIO_000772
miriam-pubmed:14970843
;
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:NP3260.RA44pkWmBjTOZK2cezkUhd6b5PyGyZdnDr0GEKTqn7E_s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:51+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: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" .
}