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 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 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 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 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: 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 CausalMutation disease CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.740 Biomarker disease CTD_human
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: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. 29066376 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: 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
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. 28126652 2017
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability. 28481730 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. 29067402 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. 27036546 2016
Entrez Id: 5422
Gene Symbol: POLA1
POLA1 		0.300 GermlineCausalMutation disease ORPHANET DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. 27019227 2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 2016
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Phenotypic and molecular insights into CASK-related disorders in males. 25886057 2015
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. 26290468 2015
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. 25846674 2015
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		0.300 Biomarker disease CLINGEN Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3. 25666827 2015
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. 25666757 2015
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 A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 24556213 2014