Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability. 25652354 2015
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: 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: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN AGTR2 mutations in X-linked mental retardation. 12089445 2002
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review. 26587761 2016
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 15162322 2004
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development. 28445732 2017
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: 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: 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: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. 26310293 2015
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: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Shh signaling protects Atoh1 from degradation mediated by the E3 ubiquitin ligase Huwe1 in neural precursors. 24960692 2014
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome. 8288232 1993
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 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
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: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. 9668174 1998
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223 2008
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN SAP102 mediates synaptic clearance of NMDA receptors. 23103165 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: 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: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Return to quiescence of mouse neural stem cells by degradation of a proactivation protein. 27418510 2016