@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:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_head { this: np:hasAssertion dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_assertion; np:hasProvenance dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_provenance; np:hasPublicationInfo dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_publicationInfo; a np:Nanopublication . dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_assertion a np:Assertion . dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_provenance a np:Provenance . dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_publicationInfo a np:PublicationInfo . } dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_assertion { miriam-gene:1585 a ncit:C16612 . lld:C0001430 a ncit:C7057 . dgn-gda:DGNc54b87bb5c4eecc96fb032023dcf8cc3 sio:SIO_000628 miriam-gene:1585, lld:C0001430; a sio:SIO_001122 . } dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_provenance { dgn-np:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_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-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP344245.RASXUREWIVlYOWjEkqaNoPg943PCVoLY3-nsp0XpBZ0hs130_publicationInfo { this: dcterms:created "2015-08-25T14:40:58+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }