@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI
> .
@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:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_head
{
this:
np:hasAssertion
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_assertion
;
np:hasProvenance
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_provenance
;
np:hasPublicationInfo
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_assertion
a
np:Assertion
.
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_provenance
a
np:Provenance
.
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_assertion
{
miriam-gene:1822
a
ncit:C16612
.
lld:C0020179
a
ncit:C7057
.
dgn-gda:DGN6f9d9b08c27c45959b722f5e7834d604
sio:SIO_000628
miriam-gene:1822
,
lld:C0020179
;
a
sio:SIO_001122
.
}
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_provenance
{
dgn-np:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_assertion
dcterms:description
"[The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.]. 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:NP54151.RAQMX0G_DvuUOZ772-cOLkk5upjhZ1ekbdqA5zLCGZxGI130_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" .
}