Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81 		0.300 Biomarker disease CLINGEN
Entrez Id: 57502
Gene Symbol: NLGN4X
NLGN4X 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN A gene for dominant nonspecific X-linked mental retardation is located in Xq28. 9106537 1997
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		0.300 Biomarker disease CLINGEN A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. 28630650 2017
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. 27222290 2016
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: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 15342698 2004
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
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 Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids. 27656110 2016
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN AGTR2 mutations in X-linked mental retardation. 12089445 2002
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 Biomarker disease CLINGEN Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. 28887151 2017
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: 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: 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 AP-1/σ1B-Dependent SV Protein Recycling Is Regulated in Early Endosomes and Is Coupled to AP-2 Endocytosis. 25128028 2015
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 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 Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. 27615324 2017
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: 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 Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. 22840365 2012