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 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 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: 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
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 CausalMutation disease CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 GeneticVariation disease BEFREE Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. 24727054 2015
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: 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: 170302
Gene Symbol: ARX
ARX 		0.740 Biomarker disease CTD_human
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN GluA3-deficiency in mice is associated with increased social and aggressive behavior and elevated dopamine in striatum. 22285418 2012
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: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
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: 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 Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. 16014725 2005
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: 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 Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome. 29246092 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. 28234597 2017
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: 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 A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 24556213 2014
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: 254065
Gene Symbol: BRWD3
BRWD3 		0.300 Biomarker disease CLINGEN Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017