Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		0.650 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1 		0.530 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.430 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 7812
Gene Symbol: CSDE1
CSDE1 		0.420 Biomarker disease GENOMICS_ENGLAND Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission. 31579823 2019
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.400 Biomarker disease GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 9369
Gene Symbol: NRXN3
NRXN3 		0.330 Biomarker disease GENOMICS_ENGLAND Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses. 22209245 2012
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.320 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2 		0.320 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B 		0.310 Biomarker disease GENOMICS_ENGLAND Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393 2014
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP 		0.310 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
Entrez Id: 3751
Gene Symbol: KCND2
KCND2 		0.310 Biomarker disease GENOMICS_ENGLAND Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening. 29581270 2018
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP 		0.310 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2 		0.300 Biomarker disease GENOMICS_ENGLAND [Transudative bile peritonitis in the elderly]. 516625 1979
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		0.300 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
Entrez Id: 26523
Gene Symbol: AGO1
AGO1 		0.300 Biomarker disease GENOMICS_ENGLAND Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. 29346770 2018
Entrez Id: 84148
Gene Symbol: KAT8
KAT8 		0.300 Biomarker disease GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431 2020
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.300 Biomarker disease 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: 349075
Gene Symbol: ZNF713
ZNF713 		0.300 Biomarker disease GENOMICS_ENGLAND A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. 25196122 2014
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease CTD_human Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 17322880 2007
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082 2008