RPS6, ribosomal protein S6, 6194

N. diseases: 117; N. variants: 2
Disease: Hemimegalencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.010 Biomarker disease BEFREE Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. 31411685 2019