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 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: 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: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability. 24303071 2013
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 Biomarker disease CLINGEN X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval. 23966691 2013
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		0.300 Biomarker disease CLINGEN Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. 23721686 2013
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: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. 22291894 2012
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: 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: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN SAP102 mediates synaptic clearance of NMDA receptors. 23103165 2012
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. 22840365 2012
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. 23092983 2012
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 Biomarker disease CLINGEN Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. 21989057 2012
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		0.300 Biomarker disease CLINGEN Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). 21384559 2011
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 Biomarker disease CLINGEN Synaptophysin regulates the kinetics of synaptic vesicle endocytosis in central neurons. 21658579 2011
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 22002931 2011
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. 19795139 2010
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: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.300 Biomarker disease CLINGEN Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum. 20231446 2010
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 20159109 2010
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain. 19686682 2009
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: 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