@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8
> .
@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/v4.0.0/void/
> .
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_head
{
this:
np:hasAssertion
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion
;
np:hasProvenance
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion
a
np:Assertion
.
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance
a
np:Provenance
.
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion
{
miriam-gene:5621
a
ncit:C16612
.
lld:C0162534
a
ncit:C7057
.
dgn-gda:DGNd324109ef61778a16d45abd5151af31c
sio:SIO_000628
miriam-gene:5621
,
lld:C0162534
;
a
sio:SIO_001122
.
}
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_provenance
{
dgn-np:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_assertion
dcterms:description
"[Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD178) are two prion diseases that have different clinical and pathological features, the same aspartic acid to asparagine mutation (D178N) at codon 178 of the prion protein (PrP) gene, but distinct genotypes generated by the methionine-valine polymorphism at codon 129 (129M or 129V) in the mutant allele of the PrP gene.]. 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:7767490
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1321187.RAD4YDjF_eOwyDD6ypy5ahYgYRVtG1MsOYV7lIXD-ktf8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:45+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}