@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k
> .
@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:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_head
{
this:
np:hasAssertion
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_assertion
;
np:hasProvenance
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_provenance
;
np:hasPublicationInfo
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_assertion
a
np:Assertion
.
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_provenance
a
np:Provenance
.
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_assertion
{
miriam-gene:29984
a
ncit:C16612
.
lld:C0339525
a
ncit:C7057
.
dgn-gda:DGN30771ddd97bc4c4315b15583efe66853
sio:SIO_000628
miriam-gene:29984
,
lld:C0339525
;
a
sio:SIO_001121
.
}
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_provenance
{
dgn-np:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_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-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:NP252348.RAf4xyBaehbe6EehwcDf0zIkVsFpa-yFFkupSwV7GWJ_k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:21+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" .
}