Disease: Conn Adenoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). 27729216 2016
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Recently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA). 26807823 2016
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 GeneticVariation disease BEFREE A high rate of somatic mutation in APA was found (n=91, 61.5%); including mutations in KCNJ5 (n=88, 59.5%), ATP1A1 (n=2, 1.4%), and ATP2B3 (n=1, 0.7%); however, no mutations in CACNA1D were identified. 26066391 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE The mRNA expression of KCNJ5, CYP11B2, and ATP2B3 was higher in the KCNJ5-mutated APA tissues. 25906099 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA. 25424518 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D are found in aldosterone-producing adenoma. 26351028 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Recent studies suggested that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are involved in the pathogenesis of APA. 26481629 2015
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma 		0.080 Biomarker disease BEFREE Recent studies have shown that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are associated with the pathogenesis of aldosterone-producing adenoma. 25624344 2015