@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg
> .
@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:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_head
{
this:
np:hasAssertion
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_assertion
;
np:hasProvenance
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_provenance
;
np:hasPublicationInfo
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_assertion
a
np:Assertion
.
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_provenance
a
np:Provenance
.
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_assertion
{
miriam-gene:4935
a
ncit:C16612
.
lld:C0028738
a
ncit:C7057
.
dgn-gda:DGNc855041287fd47d0cd252e94f32eb7ef
sio:SIO_000628
miriam-gene:4935
,
lld:C0028738
;
a
sio:SIO_001121
.
}
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_provenance
{
dgn-np:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_assertion
dcterms:description
"[OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity.]. 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:12515581
;
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:NP820914.RA_HycxASXBKPeGRCKC5MRMCVSDIHHhuwISeXShhcAIXg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:23+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" .
}