@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ
> .
@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:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_head
{
this:
np:hasAssertion
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_assertion
;
np:hasProvenance
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_assertion
a
np:Assertion
.
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_provenance
a
np:Provenance
.
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_assertion
{
miriam-gene:2078
a
ncit:C16612
.
lld:C0271183
a
ncit:C7057
.
dgn-gda:DGN9ddb40bdd4e8af2f99ed25e99b86e2a0
sio:SIO_000628
miriam-gene:2078
,
lld:C0271183
;
a
sio:SIO_001121
.
}
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_provenance
{
dgn-np:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_assertion
dcterms:description
"[Obligate carriers from the two Danish families had no visual complaints and normal to slightly reduced retinal function, while those from the Israeli family suffered from high myopia, low visual acuity, constricted visual fields, and severely reduced electroretinogram (ERG) amplitudes.]. 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:17480003
;
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:NP445728.RAjmHrPaZXyyg8KktI4eJPZd173joX1al6pDXVkjJYzlQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:25+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" .
}