@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c
> .
@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:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_head
{
this:
np:hasAssertion
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_assertion
;
np:hasProvenance
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_provenance
;
np:hasPublicationInfo
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_assertion
a
np:Assertion
.
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_provenance
a
np:Provenance
.
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_assertion
{
miriam-gene:3762
a
ncit:C16612
.
lld:C1384514
a
ncit:C7057
.
dgn-gda:DGNe162804fecb377e2f6293ee9999814a2
sio:SIO_000628
miriam-gene:3762
,
lld:C1384514
;
a
sio:SIO_001121
.
}
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_provenance
{
dgn-np:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_assertion
dcterms:description
"[These findings demonstrate striking variations in phenotypes and clinical outcome resulting from different mutations of the same amino acid in KCNJ5 and have implications for the diagnosis and pathogenesis of primary aldosteronism with and without adrenal hyperplasia.]. 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:22308486
;
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:NP958874.RABv-pbLuNXv5akbf1x7mNdxM2V9maUyLtFOpWx-H7o_c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:59+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" .
}