Disease: Adenoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386352318
rs386352318
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
CUI: C0001430
Disease:
Adenoma 		0.020 GeneticVariation BEFREE Major contributions (FH I, FH III) have been by Lifton and his associates; more recently they have also described somatic mutations (G151R, L168R) in KCNJ5 in over a third of aldosterone-producing adenomas, with results confirmed, refined, and extended in a much larger study from Europe. 22359160 2012
dbSNP: rs386352318
rs386352318
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
CUI: C0001430
Disease:
Adenoma 		0.020 GeneticVariation BEFREE Somatic G151R or L168R mutations were also found in 40% of aldosterone producing adenomas associated with marked hyperplasia, but not in specimens with merely unilateral hyperplasia. 22848660 2012
dbSNP: rs386352319
rs386352319
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5
CUI: C0001430
Disease:
Adenoma 		0.010 GeneticVariation BEFREE Recently, either of two recurrent somatic missense mutations (G151R or L168R) was found in the potassium channel KCNJ5 gene in aldosterone producing adenomas. 22848660 2012