Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 12525535 2003
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN The XLMR gene ACSL4 plays a role in dendritic spine architecture. 19166906 2009
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids. 27656110 2016
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN Analyses of mental dysfunction-related ACSl4 in Drosophila reveal its requirement for Dpp/BMP production and visual wiring in the brain. 19617635 2009
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN dAcsl, the Drosophila ortholog of acyl-CoA synthetase long-chain family member 3 and 4, inhibits synapse growth by attenuating bone morphogenetic protein signaling via endocytic recycling. 24553921 2014
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN AGTR2 mutations in X-linked mental retardation. 12089445 2002
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy. 22269148 2012
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN Impaired spatial memory and altered dendritic spine morphology in angiotensin II type 2 receptor-deficient mice. 18335189 2008
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN Candidate Agtr2 influenced genes and pathways identified by expression profiling in the developing brain of Agtr2(-/y) mice. 19501643 2009
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 2018058 1991
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN AP-1/sigma1B-adaptin mediates endosomal synaptic vesicle recycling, learning and memory. 20203623 2010
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. 22210230 2012
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. 18428203 2008
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway. 27411398 2016
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. 17186471 2006
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. 17617514 2007
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22. 12599187 2003
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. 10398241 1999
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). 23756445 2014
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Next-generation sequencing in X-linked intellectual disability. 25649377 2015
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN AP-1/σ1B-Dependent SV Protein Recycling Is Regulated in Early Endosomes and Is Coupled to AP-2 Endocytosis. 25128028 2015
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 Biomarker disease CLINGEN MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. 17304053 2007