RPS6KA3, ribosomal protein S6 kinase A3, 6197

N. diseases: 315; N. variants: 37
Disease: Mental Retardation, X-Linked 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 GeneticVariation disease UNIPROT Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996 2006
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 GeneticVariation disease UNIPROT A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. 10319851 1999
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 Biomarker 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
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 CausalMutation disease CLINVAR
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 Biomarker disease CTD_human
CUI: C0796225
Disease: Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 19 		0.710 GeneticVariation disease CLINVAR