@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ
> .
@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 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:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_head
{
this:
np:hasAssertion
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion
;
np:hasProvenance
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion
a
np:Assertion
.
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance
a
np:Provenance
.
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion
{
miriam-gene:6559
a
ncit:C16612
.
lld:C0268450
a
ncit:C7057
.
dgn-gda:DGNa09070c034fb00a158e5d7dd4643f09b
sio:SIO_000628
miriam-gene:6559
,
lld:C0268450
;
a
sio:SIO_001122
.
}
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_provenance
{
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_assertion
dcterms:description
"[Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the basolateral chloride channel (CLCNKB) in the distal nephron are the most common genetic mutations in Gitelman's syndrome (GS) or Bartter's syndrome (BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15687331
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP6000.RAmAdazrqj7M-4oehi39TsmQrPUBxAuDXUo9qCD3FTpjQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}