RPS6KA1, ribosomal protein S6 kinase A1, 6195

N. diseases: 68; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2220255
Disease: Motor disturbances
Motor disturbances
0.010 AlteredExpression phenotype BEFREE First, we show a reduction of Rsk1 and 2 protein levels in the striatum of two HD mouse models, R6/1 and Hdh(Q7/Q111) knock-in mice, at ages when they suffer from motor disturbances. 27063456 2016