@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk
> .
@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:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_head
{
this:
np:hasAssertion
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_assertion
;
np:hasProvenance
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_provenance
;
np:hasPublicationInfo
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_assertion
a
np:Assertion
.
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_provenance
a
np:Provenance
.
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_assertion
{
miriam-gene:554
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNf86d0a86613b74475b15f468942347bd
sio:SIO_000628
miriam-gene:554
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_provenance
{
dgn-np:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_assertion
dcterms:description
"[Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value because early diagnosis and treatment can avert the physical and mental retardation associated with repeated episodes of dehydration.]. 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:16580609
;
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:NP258029.RARi-f0ktbc_LhOZXwqCPrxirMqBBb3kfQpCmu0Qpsnwk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:24+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" .
}