Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 686
Gene Symbol: BTD
BTD
0.300 Biomarker disease CTD_human Our patient is the first case of partial biotinidase deficiency associated with autism. 13680408 2003
Entrez Id: 721
Gene Symbol: C4B
C4B
0.320 Biomarker disease CTD_human Confirmation of the association of the C4B null allelle in autism. 15694999 2005
Entrez Id: 721
Gene Symbol: C4B
C4B
0.320 Biomarker disease CTD_human The link of C4B null allele to autism and to a family history of autoimmunity in Egyptian autistic children. 20452682 2010
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.450 Biomarker disease CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
0.310 Biomarker disease CTD_human CACNA1H mutations in autism spectrum disorders. 16754686 2006
Entrez Id: 23705
Gene Symbol: CADM1
CADM1
0.310 Biomarker disease CTD_human Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. 18957284 2008
Entrez Id: 93664
Gene Symbol: CADPS2
CADPS2
0.350 Biomarker disease CTD_human Our results suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility. 17380209 2007
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.300 Biomarker disease CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950 2001
Entrez Id: 847
Gene Symbol: CAT
CAT
0.300 Biomarker disease CTD_human In the autistic group, increased TBARS levels (p < 0.001) and XO (p < 0.001) and SOD (p < 0.001) activity, decreased CAT (p < 0.001) activity and unchanged ADA activity were detected. 15205966 2004
Entrez Id: 1008
Gene Symbol: CDH10
CDH10
0.310 Biomarker disease CTD_human Common genetic variants on 5p14.1 associate with autism spectrum disorders. 19404256 2009
Entrez Id: 1007
Gene Symbol: CDH9
CDH9
0.310 Biomarker disease CTD_human Common genetic variants on 5p14.1 associate with autism spectrum disorders. 19404256 2009
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: 57680
Gene Symbol: CHD8
CHD8
0.700 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
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: 1137
Gene Symbol: CHRNA4
CHRNA4
0.310 Biomarker disease CTD_human Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
0.430 Biomarker disease CTD_human Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
0.310 Biomarker disease CTD_human Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
Entrez Id: 5067
Gene Symbol: CNTN3
CNTN3
0.300 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 152330
Gene Symbol: CNTN4
CNTN4
0.340 Biomarker disease CTD_human Disruption of contactin 4 in three subjects with autism spectrum disorder. 18349135 2009
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.500 Biomarker disease CTD_human We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. 18179894 2008
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.500 Biomarker disease CTD_human We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors. 21310003 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.500 Biomarker disease CTD_human At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. 20157312 2011
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.430 Biomarker disease CTD_human Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. 16917939 2006