@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM
> .
@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/v3.0.0/void/
> .
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_head
{
this:
np:hasAssertion
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_assertion
;
np:hasProvenance
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_provenance
;
np:hasPublicationInfo
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_assertion
a
np:Assertion
.
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_provenance
a
np:Provenance
.
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_assertion
{
miriam-gene:6010
a
ncit:C16612
.
lld:C3825627
a
ncit:C7057
.
dgn-gda:DGN597a40e1793d788b7e9711abcff3e40f
sio:SIO_000628
miriam-gene:6010
,
lld:C3825627
;
a
sio:SIO_001122
.
}
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_provenance
{
dgn-np:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_assertion
dcterms:description
"[The P23H mutation within the rhodopsin gene (RHO) causes rhodopsin misfolding, endoplasmic reticulum (ER) stress, and activates the unfolded protein response (UPR), leading to rod photoreceptor degeneration and autosomal dominant retinitis pigmentosa (ADRP).]. 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:20231467
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP672078.RAUQbR9C5XAtPqHKg9levj4AvJpAk41m4PwUGqhSPixjM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:24+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}