Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
0.320 GeneticVariation disease BEFREE Primary hyperaldosteronism (Conn's syndrome), a common cause of secondary hypertension, is frequently produced by unilateral aldosterone-producing adenomas that carry mutations in ion-transporting genes, including ATP1A1, encoding the Na/K pump's α1 subunit. 30811176 2019
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
0.320 GeneticVariation disease BEFREE Recently, the molecular basis of primary aldosteronism has begun to be unraveled, with the discovery of mutations in potassium channel (KCNJ5), ATPases (ATP1A1, ATP2B3), and calcium channel (CACNA1D), and aberrant Wnt/β-catenin signaling. 26125435 2015
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
0.320 Biomarker disease CTD_human Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. 23416519 2013