@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE
> .
@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:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_head
{
this:
np:hasAssertion
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_assertion
;
np:hasProvenance
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_provenance
;
np:hasPublicationInfo
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_assertion
a
np:Assertion
.
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_provenance
a
np:Provenance
.
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_assertion
{
miriam-gene:6010
a
ncit:C16612
.
lld:C1998028
a
ncit:C7057
.
dgn-gda:DGN647d52e2cdb465b6370f7326aa86025e
sio:SIO_000628
miriam-gene:6010
,
lld:C1998028
;
a
sio:SIO_001121
.
}
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_provenance
{
dgn-np:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_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:NP298066.RADeXYaPRxLveXyJiamyrmWWrh8a59Q0GAB6kMaftJmRE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:49+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" .
}