@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc
> .
@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:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_head
{
this:
np:hasAssertion
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_assertion
;
np:hasProvenance
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_provenance
;
np:hasPublicationInfo
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_assertion
a
np:Assertion
.
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_provenance
a
np:Provenance
.
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_assertion
{
miriam-gene:551
a
ncit:C16612
.
lld:C1563705
a
ncit:C7057
.
dgn-gda:DGN874e99040260883f999853f7d6db9e12
sio:SIO_000628
miriam-gene:551
,
lld:C1563705
;
a
sio:SIO_001122
.
}
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_provenance
{
dgn-np:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_assertion
dcterms:description
"[The R137H mutation results in a failure of V2R to stimulate adenylate cyclase and has been associated consistently with severe NDI and the inability to increase urinary osmolality to greater than plasma osmolality during water deprivation and/or infusion of 1-desamino-8-d-arginine vasopressin.]. 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:11920339
;
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:NP349769.RASl13y1LP9FAZF_TX7EB-x0zpshluH0iK4a2vE76YkQc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:24+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: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" .
}