@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_head
{
this:
np:hasAssertion
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_assertion
;
np:hasProvenance
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_provenance
;
np:hasPublicationInfo
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_assertion
a
np:Assertion
.
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_provenance
a
np:Provenance
.
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_assertion
{
miriam-gene:6315
a
ncit:C16612
.
lld:C0242422
a
ncit:C7057
.
dgn-gda:DGN262702d05b9e3fe0bcf96206a176ed34
sio:SIO_000628
miriam-gene:6315
,
lld:C0242422
;
a
sio:SIO_001121
.
}
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_provenance
{
dgn-np:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_assertion
dcterms:description
"[However, allele sizes within the SCA8 proposed pathogenic range have been reported in patients with ataxia of unknown etiology, in individuals from pedigrees with other SCA or Friedreich's ataxia, and in patients with Alzheimer's disease, schizophrenia or parkinsonism.]. 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:18708037
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP682004.RA-WVkrDi5iQptaQBo_k4D1b2MvioP3J1ESgz9Y_yxn7c130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:31+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}