@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM
> .
@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:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_head
{
this:
np:hasAssertion
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_assertion
;
np:hasProvenance
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_provenance
;
np:hasPublicationInfo
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_assertion
a
np:Assertion
.
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_provenance
a
np:Provenance
.
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN0c8b8b2c44fb3fcd0c479046c5a91f11
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001121
.
}
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_provenance
{
dgn-np:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_assertion
dcterms:description
"[The intragenic cis-interactions between the common polymorphisms and the pathogenic mutations of prion protein (PRNP) and cystic fibrosis transmembrane conductance regulator (CFTR) genes greatly influence the phenotypes and the disease penetrance of hereditary Creutzfeldt-Jakob disease and cystic fibrosis.]. 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:15829248
;
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:NP489795.RAk1HUx626KZwxnnAqtJ3nLRjfBs0PsYxyG91yyoHOVhM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:27+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" .
}