@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k
> .
@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#
> .
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_head
{
this:
np:hasAssertion
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_assertion
;
np:hasProvenance
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_provenance
;
np:hasPublicationInfo
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_assertion
a
np:Assertion
.
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_provenance
a
np:Provenance
.
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_assertion
{
miriam-gene:6403
a
ncit:C16612
.
lld:C0027051
a
ncit:C7057
.
dgn-gda:DGN80630373b120a0e2692b5b72312679b6
sio:SIO_000628
miriam-gene:6403
,
lld:C0027051
;
a
sio:SIO_001122
.
}
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_provenance
{
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_assertion
dcterms:description
"[Detailed haplotype analysis confirmed the protective effect of the P715 allele but additionally revealed that the presence of two asparagine codons at sites S290N and N562D was associated with a higher risk of MI, consistenly in France and Northern Ireland, but only when they were carried by the same haplotype. This finding illustrates the complexity of the relationship between gene variability and disease and the necessity to explore in detail the polymorphisms of candidate genes.]. 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:12165563
;
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 .
}
dgn-np:NP52039.RAym6_mZpDXcJPVFIVF03k_jUSPe16BV-Qpe98dxncs7k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}