PAK3, p21 (RAC1) activated kinase 3, 5063

N. diseases: 134; N. variants: 7
Disease: Mental Retardation, X-Linked 30 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 GeneticVariation disease UNIPROT X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430 2003
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 Biomarker disease GENOMICS_ENGLAND X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430 2003
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 GeneticVariation disease UNIPROT Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 10946356 2000
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 GeneticVariation disease UNIPROT Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase. 9731525 1998
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 Biomarker disease CTD_human
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 GeneticVariation disease CLINVAR
CUI: C0796237
Disease: Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 30 		0.700 CausalMutation disease CLINVAR