@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA
> .
@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/v4.0.0/void/
> .
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_head
{
this:
np:hasAssertion
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion
;
np:hasProvenance
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion
a
np:Assertion
.
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance
a
np:Provenance
.
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion
{
miriam-gene:6311
a
ncit:C16612
.
lld:C0752121
a
ncit:C7057
.
dgn-gda:DGN1c4e581a5bb3159e81858a8317230d43
sio:SIO_000628
miriam-gene:6311
,
lld:C0752121
;
a
sio:SIO_001121
.
}
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance
{
dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion
dcterms:description
"[The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation.]. 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:9549522
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:17+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}