@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg
> .
@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:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_head
{
this:
np:hasAssertion
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_assertion
;
np:hasProvenance
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_provenance
;
np:hasPublicationInfo
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_assertion
a
np:Assertion
.
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_provenance
a
np:Provenance
.
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_assertion
{
miriam-gene:5663
a
ncit:C16612
.
lld:C0011265
a
ncit:C7057
.
dgn-gda:DGN3efc90fde1cf5b81c3599c7d586d1b0b
sio:SIO_000628
miriam-gene:5663
,
lld:C0011265
;
a
sio:SIO_001122
.
}
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_provenance
{
dgn-np:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_assertion
dcterms:description
"[Involvement of cerebellar and brainstem structures leading to functional decortication in addition to rapid progressive presenile dementia in this PSEN1 family may therefore indicate an epistatic effect of the p.A58V Cathepsin D variant on the deleterious course of this disease.]. 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:23415546
;
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:NP650586.RAWUTyaemeTI3cZwACpohe1N_lWTqjVxeUxAxpxGscZyg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:10+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" .
}