@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY
> .
@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
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_assertion
;
np:hasProvenance
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_provenance
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np:hasPublicationInfo
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_assertion
a
np:Assertion
.
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_provenance
a
np:Provenance
.
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_assertion
{
miriam-gene:65125
a
ncit:C16612
.
lld:C1449844
a
ncit:C7057
.
dgn-gda:DGN6ee47eb7bb4018d750333a14caec6cb2
sio:SIO_000628
miriam-gene:65125
,
lld:C1449844
;
a
sio:SIO_001121
.
}
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_provenance
{
dgn-np:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_assertion
dcterms:description
"[Genetic studies in humans have shown that large intronic deletions in WNK1 lead to its overexpression and are responsible for pseudohypoaldosteronism type II, an autosomal dominant disorder characterized by hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion.]. 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:14610273
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP368338.RATYd4xTfLqRlays3qsty6SaTSSjead4ebrXI4mZoTvmY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:35+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
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