×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
GeneticVariation
disease
UNIPROT
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
17100996
2006
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
GeneticVariation
disease
UNIPROT
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
10319851
1999
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
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
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
CausalMutation
disease
CLINVAR
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.710
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.200
Biomarker
disease
MGD
Altered thalamocortical development in the SAP102 knockout model of intellectual disability.
27466188
2016
×
Entrez Id:
2664
Gene Symbol:
GDI1
GDI1
0.200
Biomarker
disease
MGD
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
18829665
2009
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
0.010
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
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:
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:
2334
Gene Symbol:
AFF2
AFF2
0.010
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