Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 5595
Gene Symbol: MAPK3
MAPK3 		0.340 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
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: 547
Gene Symbol: KIF1A
KIF1A 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 57705
Gene Symbol: WDFY4
WDFY4 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
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: 1108
Gene Symbol: CHD4
CHD4 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 85458
Gene Symbol: DIXDC1
DIXDC1 		0.310 Biomarker disease CTD_human Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls. 27752079 2018
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: 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: 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: 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: 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: 1636
Gene Symbol: ACE
ACE 		0.310 Biomarker disease CTD_human There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively). 27082637 2016
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: 85358
Gene Symbol: SHANK3
SHANK3 		0.500 Biomarker disease CTD_human Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3-deficient mice exhibit autism-like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex. 26027926 2015
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1 		0.310 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.300 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.300 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.500 Biomarker disease CTD_human A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
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: 10771
Gene Symbol: ZMYND11
ZMYND11 		0.310 Biomarker disease CTD_human These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features. 25217958 2014
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