@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps
> .
@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:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_head
{
this:
np:hasAssertion
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_assertion
;
np:hasProvenance
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_provenance
;
np:hasPublicationInfo
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_assertion
a
np:Assertion
.
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_provenance
a
np:Provenance
.
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_assertion
{
miriam-gene:6121
a
ncit:C16612
.
lld:C0456909
a
ncit:C7057
.
dgn-gda:DGN7c9d985eedbe852dac7e8446ed514b4b
sio:SIO_000628
miriam-gene:6121
,
lld:C0456909
;
a
sio:SIO_001121
.
}
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_provenance
{
dgn-np:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_assertion
dcterms:description
"[Mutations in the retinal pigment epithelium gene encoding RPE65 cause an early onset autosomal recessive form of human retinitis pigmentosa, known as Leber congenital amaurosis (LCA), which results in blindness or severely impaired vision in children.]. 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:15765048
;
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:NP404122.RAIaz2U__K5aLlStnhtqJ0u9W493Oy_v50N_Q45Wuc_ps130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:00+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" .
}