RPS6, ribosomal protein S6, 6194

N. diseases: 117; N. variants: 2
Disease: Coffin-Lowry syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.030 GeneticVariation disease BEFREE Loss-of-function mutations in the Ribosomal Protein S6 Kinase Polypeptide 3 (RPS6KA3) gene have been shown to be responsible for CLS. 26297997 2016
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.030 Biomarker disease BEFREE The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities. 23985797 2013
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		0.030 Biomarker disease BEFREE We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). 17100996 2006