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http://rdf.disgenet.org/nanopublications.trig#NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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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
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_assertion
a
np:Assertion
.
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_provenance
a
np:Provenance
.
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN442e130bc5ce9b20f9c8d7b1560cc71b
sio:SIO_000628
miriam-gene:54840
,
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;
a
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.
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dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_provenance
{
dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_assertion
dcterms:description
"[Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:15164193
;
prov:wasDerivedFrom
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;
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
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dgn-np:NP186285.RAeVhbgO4YqFFneEVgnRbnYufQ9CUISMn6yi0U92od-_M130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
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