@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc
> .
@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:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_head
{
this:
np:hasAssertion
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion
;
np:hasProvenance
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance
;
np:hasPublicationInfo
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion
a
np:Assertion
.
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance
a
np:Provenance
.
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion
{
miriam-gene:1123
a
ncit:C16612
.
lld:C0013261
a
ncit:C7057
.
dgn-gda:DGNd2ce72a0a7c2286b5707b30db7b0e59e
sio:SIO_000628
miriam-gene:1123
,
lld:C0013261
;
a
sio:SIO_001121
.
}
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_provenance
{
dgn-np:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_assertion
dcterms:description
"[Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos.]. 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:20535495
;
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:NP372918.RA4CvQPFuxjXYOgrWsv59Bd3bLKsEDABk4YNXC4RM1nVc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:38+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" .
}