@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI
> .
@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:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_head
{
this:
np:hasAssertion
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_assertion
;
np:hasProvenance
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_provenance
;
np:hasPublicationInfo
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_assertion
a
np:Assertion
.
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_provenance
a
np:Provenance
.
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_assertion
{
miriam-gene:23230
a
ncit:C16612
.
lld:C0687751
a
ncit:C7057
.
dgn-gda:DGNd1f0dc0d029944b1a49ed6f8c64b78d4
sio:SIO_000628
miriam-gene:23230
,
lld:C0687751
;
a
sio:SIO_001121
.
}
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_provenance
{
dgn-np:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_assertion
dcterms:description
"[A man, aged 52, is reported to show (1) adult onset, (2) progressive orofacial dyskinesia and choreic movements of the extremities, (3) tongue biting, (4) denervation of the peripheral nerves, (5) acanthocytosis, and (6) increased serum creatine kinase, which are characteristic of chorea-acanthocytosis.]. 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:7931422
;
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:NP843391.RAJmJ_681dJx0_IAD7MHiyj1OTsXo6DpW2OSeof7H8zRI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:35+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" .
}