@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM
> .
@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:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_head
{
this:
np:hasAssertion
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_assertion
;
np:hasProvenance
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_provenance
;
np:hasPublicationInfo
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_assertion
a
np:Assertion
.
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_provenance
a
np:Provenance
.
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_assertion
{
miriam-gene:185
a
ncit:C16612
.
lld:C0266313
a
ncit:C7057
.
dgn-gda:DGNf25d15d63a45277331193e5746ec1c9d
sio:SIO_000628
miriam-gene:185
,
lld:C0266313
;
a
sio:SIO_001122
.
}
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_provenance
{
dgn-np:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_assertion
dc:description
"[We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.]. 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:16116425
;
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:NP248.RAEpWqtnUE6DSiGsVdY88fCfd3vEM5_8bKk5P6QEFU4zM130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:58+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}