RPS6KB1, ribosomal protein S6 kinase B1, 6198

N. diseases: 169; N. variants: 4
Disease: Angiomyolipoma of kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		0.010 GeneticVariation disease BEFREE These cell lines, derived from LAM nodule or an angiomyolipoma, are usually characterized by a mutation of the TSC2 gene, expression of smooth muscle cell antigens such as a-smooth muscle actin (aSMA) or S6K1 and S6 protein hyperphosphorylation. 23690211 2013