RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
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 		1.000 Biomarker disease BEFREE Thus, Rsk2 loss-of-function, as seen in CLS, perturbs the differentiation of neural precursors into neurons, and maintains them instead as proliferating radial precursor cells, a defect that may underlie the cognitive dysfunction seen in CLS. 20832397 2010
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. 17717706 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN Gene deletion studies in mice have shown an essential role for the Rsk2 gene in osteoblast differentiation and function, establishing a causal link between Rsk2 deficiency and skeletal abnormalities of CLS. 17033934 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 AlteredExpression disease BEFREE Reconstitution of RSK2 in cells from subjects with a genetic defect in RSK2 expression (Coffin-Lowry syndrome) enhanced Tat transactivation. 17225856 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. 17318637 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. 17318637 2007
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Here we present 44 novel mutations in RSK2 causing CLS. 16879200 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. 16691578 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Here we present 44 novel mutations in RSK2 causing CLS. 16879200 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. 16691578 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Because RSK2-inactivating mutations in humans lead to Coffin-Lowry syndrome, our results imply that alterations in GPCR signaling may account for some of its clinical manifestations. 16537434 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease LHGDN Here we present 44 novel mutations in RSK2 causing CLS. 16879200 2006
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease BEFREE Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities. 15719069 2005
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. 15668050 2005
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. 14973203 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Cardiomyopathy in Coffin-Lowry syndrome. 15214012 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD These findings identify ATF4 as a critical regulator of osteoblast differentiation and function, and indicate that lack of ATF4 phosphorylation by RSK2 may contribute to the skeletal phenotype of CLS. 15109498 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease CLINGEN The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. 14678837 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 AlteredExpression disease LHGDN The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. 14678837 2004
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease UNIPROT Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 14986828 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. 14986828 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 Biomarker disease MGD Insulin resistance and lipodystrophy in mice lacking ribosomal S6 kinase 2. 12765942 2003
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1.000 GeneticVariation disease BEFREE CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase. 11896450 2002