@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA
> .
@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:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_head
{
this:
np:hasAssertion
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_assertion
;
np:hasProvenance
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_provenance
;
np:hasPublicationInfo
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_assertion
a
np:Assertion
.
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_provenance
a
np:Provenance
.
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_assertion
{
miriam-gene:5079
a
ncit:C16612
.
lld:C0454596
a
ncit:C7057
.
dgn-gda:DGN06bd6b37c59d63036e06ef8cccd946a8
sio:SIO_000628
miriam-gene:5079
,
lld:C0454596
;
a
sio:SIO_001122
.
}
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_provenance
{
dgn-np:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_assertion
dcterms:description
"[All 3 individuals in this family had disease onset in their 30s, with cognitive deficits in multiple domains, including memory, language, and attention, as well as less common features such as spastic dysarthria, limb spasticity, and seizures.]. 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:18580586
;
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:NP610112.RA18DBOWwfuqRNlJs1xWzOur0Vv54bepTpOFyxcoBJhlA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:44+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" .
}