@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0
> .
@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/v4.0.0/void/
> .
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_head
{
this:
np:hasAssertion
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion
;
np:hasProvenance
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion
a
np:Assertion
.
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance
a
np:Provenance
.
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion
{
miriam-gene:24
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGNb4ba4c39bb4f27a95e24b2f433e4d90d
sio:SIO_000628
miriam-gene:24
,
lld:C0035334
;
a
sio:SIO_001121
.
}
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_provenance
{
dgn-np:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_assertion
dcterms:description
"[Ophthalmologic findings included markedly reduced visual acuity, bull's eye maculopathy, foveal hyperpigmentation, peripapillary atrophy, dyschromatopsia, extinguished photopic responses, and reduced scotopic responses observed on electroretinography consistent with the CRD phenotype often associated with ABCA4 mutations.]. 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:25356532
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1233720.RAGll_x55KCk7UN4jaxQqJd1OnOFv-Qtnk0EOHQ96Qvk0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:05+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}