Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 CausalMutation disease CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 Biomarker disease CTD_human
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 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: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN PAK3 mutation in nonsyndromic X-linked mental retardation. 9731525 1998
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. 10644433 1999
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 10946356 2000
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 GermlineCausalMutation disease ORPHANET Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 11889467 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 Biomarker disease GENOMICS_ENGLAND Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.010 Biomarker disease BEFREE This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). 12376946 2002
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Synaptic transmission and plasticity in the absence of AMPA glutamate receptor GluR2 and GluR3. 12848940 2003
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430 2003
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. 16014725 2005
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 GeneticVariation disease BEFREE Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. 16235064 2006
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. 16940977 2006
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Involvement of the AMPA receptor GluR-C subunit in alcohol-seeking behavior and relapse. 16436610 2006
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway. 17537723 2007
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		0.300 Biomarker disease CLINGEN Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 17668385 2007
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Deletion of CASK in mice is lethal and impairs synaptic function. 17287346 2007
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN PAK3 related mental disability: further characterization of the phenotype. 17853471 2007
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. 17989220 2007
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 GeneticVariation disease BEFREE Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. 20538404 2011