Disease: Conn Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.340 GeneticVariation disease BEFREE The high prevalence of mutations in the CACNA1D L-type calcium channel provides a potential actionable therapeutic target that could complement mineralocorticoid blockade and inhibit aldosterone overproduction in some IHA patients. 30354720 2018
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.340 AlteredExpression disease BEFREE Such blockers could target CACNA1H or both CACNA1H and the L-type calcium channel CACNA1D that is also expressed in the adrenal gland and mutated in patients with primary aldosteronism. 27258646 2016
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.340 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 		0.340 GeneticVariation disease BEFREE Similar germline mutations of KCNJ5 were identified in a severe familial form of PA, familial hyperaldosteronism type 3 (FH3), whereas de novo germline CACNA1D mutations were found in two cases of hyperaldosteronism associated with a complex neurological disorder. 25424518 2015
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.340 Biomarker disease CTD_human Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013