@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI
> .
@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:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_head
{
this:
np:hasAssertion
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_assertion
;
np:hasProvenance
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_provenance
;
np:hasPublicationInfo
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_assertion
a
np:Assertion
.
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_provenance
a
np:Provenance
.
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_assertion
{
miriam-gene:4287
a
ncit:C16612
.
lld:C0234366
a
ncit:C7057
.
dgn-gda:DGN100d4f8c9e34a807d8f9d92519479041
sio:SIO_000628
miriam-gene:4287
,
lld:C0234366
;
a
sio:SIO_001121
.
}
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_provenance
{
dgn-np:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_assertion
dcterms:description
"[The origin of the progressive spinocerebellar ataxic disorder 'Machado Joseph Disease (MJD)' has been attributed solely to an expansion mutation resulting from an autosomal dominant inheritance of an unstable CAG repeat in chromosome 14q32.1 of the MJD gene that encodes for the synthesis of ataxin 3.]. 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:15637221
;
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:NP539883.RAiEs2jzfJWsWI9rntaZdI4kLQtEzUoQP-CZ53rddbzdI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:25+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" .
}