RPS6, ribosomal protein S6, 6194

N. diseases: 117; N. variants: 2
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 AlteredExpression disease BEFREE P-mTOR, p-p70S6K and p-S6 were highly expressed in dermal stromal cells and epidermal keratinocytes in fibrous papules and TSC-associated angiofibromas but not in fibroblasts and epidermal keratinocytes of normal skin controls (p<0.001). 24558502 2014
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 Biomarker disease LHGDN Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber. 15477556 2004