Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.010 Biomarker disease BEFREE Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21-pter. 3177468 1988
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.010 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.010 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		0.010 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.010 GeneticVariation disease BEFREE The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. 8826457 1996
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease UNIPROT Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 Biomarker disease CTD_human Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. 8955270 1996
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.010 Biomarker disease BEFREE The disease loci for X-linked Retinoschisis (RS), Keratosis follicularis spinulosa decalvans (KFSD), and Coffin-Lowry syndrome (CLS) have been localized to the same, small region in Xp22 on the human X Chromosome (Chr). 9195994 1997
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders. 9467016 1998
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.010 GeneticVariation disease BEFREE Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders. 9467016 1998
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease UNIPROT No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 CausalMutation disease CLINVAR No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS. 9837815 1998
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. 9887375 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 Biomarker disease CLINGEN We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease UNIPROT We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis. 10094187 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 Biomarker disease BEFREE Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts.All three sequences were normal. 10190484 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE RSK-2 mutations in humans are linked to Coffin-Lowry syndrome (CLS). 10436156 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease UNIPROT Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 10528858 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 GeneticVariation disease BEFREE Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. 10528858 1999
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		1.000 Biomarker disease BEFREE RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX. 10644430 1999