@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k
> .
@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:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_head
{
this:
np:hasAssertion
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_assertion
;
np:hasProvenance
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_provenance
;
np:hasPublicationInfo
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_assertion
a
np:Assertion
.
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_provenance
a
np:Provenance
.
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_assertion
{
miriam-gene:2317
a
ncit:C16612
.
lld:C1704273
a
ncit:C7057
.
dgn-gda:DGN73271c2cfab6a3850b7c2bf2d8c4b940
sio:SIO_000628
miriam-gene:2317
,
lld:C1704273
;
a
sio:SIO_001121
.
}
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_provenance
{
dgn-np:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_assertion
dcterms:description
"[This has generated a wealth of new knowledge regarding (1) PA's high prevalence, (2) the extent of non-BP dependent cardiovascular and renal organ damage and morbidity and reduced quality of life associated with PA, all of which appear to be at least partly ameliorated by specific treatment (especially surgical) directed against excessive aldosterone action, (3) the diversity of adrenal histopathology associated with PA and the need to subdivide patients based on glucocorticoid remediability (by genetic testing for the hybrid gene mutation causing familial hyperaldosteronism type I, FH-I) and lateralisation on adrenal venous sampling in order to ensure optimal treatment, (4) the value of elucidating genetic bases for PA in terms of improving detection, understanding of pathogenesis and treatment, as illustrated by the determination of the genetic basis of FH-I, and (5) the genetic basis of more common forms including aldosterone-producing adenoma.]. 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:23402683
;
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:NP752798.RACjEKeBkdBZQ8L-Gpp_i2kPEra4gEQISPqQg_w65Or-k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:36+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" .
}