@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_assertion
;
np:hasProvenance
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_provenance
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np:hasPublicationInfo
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_assertion
a
np:Assertion
.
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_provenance
a
np:Provenance
.
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:367
a
ncit:C16612
.
lld:C0036341
a
ncit:C7057
.
dgn-gda:DGN851bb14f166363217bd0a377c2a8ab8f
sio:SIO_000628
miriam-gene:367
,
lld:C0036341
;
a
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.
}
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_provenance
{
dgn-np:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_assertion
dcterms:description
"[The present review highlights the importance of repeat expansions in some neuropsychiatric diseases, such as spinal and bulbular atrophy (SBMA), spinocerebellar ataxia (SCA), Huntington's disease (HD), schizophrenia, myotonic dystrophy (DM) and fragile-X syndrome.]. 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:12960939
;
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:NP172133.RAAe9Vc78aeK0Z3K2K8QFC5RerXmQqGPfjgk7msURHCPw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:33+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
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dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}