Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431

2020
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024

2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488

2019
Entrez Id: 57705
Gene Symbol: WDFY4
WDFY4
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488

2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897

2019
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488

2019
Entrez Id: 26523
Gene Symbol: AGO1
AGO1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. 29346770

2018
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7). 29904178

2018
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Excess of rare, inherited truncating mutations in autism. 25961944

2015
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Excess of rare, inherited truncating mutations in autism. 25961944

2015
Entrez Id: 349075
Gene Symbol: ZNF713
ZNF713
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. 25196122

2014
Entrez Id: 5329
Gene Symbol: PLAUR
PLAUR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human The autism risk genes MET and PLAUR differentially impact cortical development. 21328570

2011
Entrez Id: 407010
Gene Symbol: MIR23A
MIR23A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008. 20374639

2010
Entrez Id: 11281
Gene Symbol: POU6F2
POU6F2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 8930
Gene Symbol: MBD4
MBD4
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. 19921286

2010
Entrez Id: 406900
Gene Symbol: MIR106B
MIR106B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008. 20374639

2010
Entrez Id: 200150
Gene Symbol: PLD5
PLD5
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 53615
Gene Symbol: MBD3
MBD3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. 19921286

2010
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Altered gene expression and function of peripheral blood natural killer cells in children with autism. 18762240

2009
Entrez Id: 3352
Gene Symbol: HTR1D
HTR1D
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human HTR1B and HTR2C in autism spectrum disorders in Brazilian families. 19038234

2009
Entrez Id: 3351
Gene Symbol: HTR1B
HTR1B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human HTR1B and HTR2C in autism spectrum disorders in Brazilian families. 19038234

2009
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 19404257

2009
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human GABA(A) receptor downregulation in brains of subjects with autism. 18821008

2009
Entrez Id: 64326
Gene Symbol: COP1
COP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 19404257

2009
Entrez Id: 51733
Gene Symbol: UPB1
UPB1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. 18853477

2009