@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0
> .
@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:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_head
{
this:
np:hasAssertion
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_assertion
;
np:hasProvenance
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_provenance
;
np:hasPublicationInfo
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_assertion
a
np:Assertion
.
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_provenance
a
np:Provenance
.
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_assertion
{
miriam-gene:6010
a
ncit:C16612
.
lld:C0339525
a
ncit:C7057
.
dgn-gda:DGNf7e2245565dba5c804544d4061071188
sio:SIO_000628
miriam-gene:6010
,
lld:C0339525
;
a
sio:SIO_001121
.
}
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_provenance
{
dgn-np:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_assertion
dcterms:description
"[While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenital stationary night blindness (CSNB).]. 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:20238025
;
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:NP186151.RAbtULHidJWEzaVf7eJwXwtUfxkx3tzcjxTLiaz69ziR0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:42+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" .
}