@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_head { this: np:hasAssertion dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_assertion; np:hasProvenance dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_provenance; np:hasPublicationInfo dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_publicationInfo; a np:Nanopublication . dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_assertion a np:Assertion . dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_provenance a np:Provenance . dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_publicationInfo a np:PublicationInfo . } dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_assertion { miriam-gene:1585 a ncit:C16612 . lld:C1384514 a ncit:C7057 . dgn-gda:DGNaa2e86c20dad9cf65371898c321f5cbe sio:SIO_000628 miriam-gene:1585, lld:C1384514; a sio:SIO_001122 . } dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_provenance { dgn-np:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_assertion dcterms:description "[The aim of our study was to identify genetic variants that influence the phenotype of patients with PA. We hypothesized that genetic variants potentially affecting aldosterone production (aldosterone synthase, CYP11B2), renal proximal tubule reabsorption (alpha-adducin), or the mechanisms of counterbalance leading to vasodilatation and sodium excretion (bradykinin B(2)-receptor, B(2)R) could influence the clinical and biochemical characteristics of patients with PA. We studied three polymorphisms of these genes (C-344T of CYP11B2, G460W of alpha-adducin, and C-58T of B(2)R) in 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism).]. 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:12107246; 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:NP360063.RAB-45ijJotpdPhIHB9NFBxq7Cl-pCE7-EAz64o9vf1DU130_publicationInfo { this: dcterms:created "2016-05-13T12:44:28+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }