@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_assertion
a
np:Assertion
.
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_provenance
a
np:Provenance
.
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_assertion
{
miriam-gene:7124
a
ncit:C16612
.
lld:C0013080
a
ncit:C7057
.
dgn-gda:DGNfab31e99188efc2d5b8de09b98f28058
sio:SIO_000628
miriam-gene:7124
,
lld:C0013080
;
a
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.
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dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_provenance
{
dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_assertion
dcterms:description
"[The association found suggests that the -48C/T polymorphism in the PSN1 gene promoter, which is involved in the modulation of amyloid beta load in human AD, is associated with DS. However, the biological role of this polymorphism in DS-related dementia remains unclear and merits further investigation.]. 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:15308304
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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 .
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dgn-np:NP50237.RAwi7RwYNkgzGb_Q6EFsLhPIpRAG-FFS99eanneD7XYJA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:23+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
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prv:usedData
dgn-void:disgenetrdf
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<
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> , <
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> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v2.1.0" .
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