@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw
> .
@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:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_head
{
this:
np:hasAssertion
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_assertion
;
np:hasProvenance
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_provenance
;
np:hasPublicationInfo
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_assertion
a
np:Assertion
.
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_provenance
a
np:Provenance
.
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_assertion
{
miriam-gene:1822
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
dgn-gda:DGN018f9557f70b9e293edf82b9e3302c34
sio:SIO_000628
miriam-gene:1822
,
lld:C0087012
;
a
sio:SIO_001122
.
}
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_provenance
{
dgn-np:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_assertion
dcterms:description
"[The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP).]. 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:18651325
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP54142.RAKcfS8ex93CKl64d8I1Ch4yXZE_884IMTM7OT8ILJUqw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:09+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" .
}