@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw
> .
@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:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_head
{
this:
np:hasAssertion
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_assertion
;
np:hasProvenance
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_provenance
;
np:hasPublicationInfo
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_assertion
a
np:Assertion
.
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_provenance
a
np:Provenance
.
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_assertion
{
miriam-gene:8322
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGN67ad0fb361665a4f51fbdaa5a40785b9
sio:SIO_000628
miriam-gene:8322
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_provenance
{
dgn-np:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_assertion
dcterms:description
"[Mutations in Norrin, the ligand of a receptor complex consisting of FZD4, LRP5 and TSPAN12, cause severe developmental blood vessel defects in the retina and progressive loss of the vascular system in the inner ear, which lead to congenital blindness and progressive hearing loss, respectively.]. 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:22394677
;
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:NP829896.RAwdFBlyl_bE_5MAU0QfRkKN5ss5vuZEWqfMvCHiXDycw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:28+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" .
}