Condition: Autistic Disorder
rs926938 in
AMPD1 gene and
Autistic Disorder
PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
rs1135402760 in
BRSK2 gene and
Autistic Disorder
PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
rs121909323 in
CACNA1A gene and
Autistic Disorder
PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
rs7741604 in
CDKAL1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs1566446604 in
CHD8 gene and
Autistic Disorder
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.
rs1718101 in
CNTNAP2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs10489525 in
CSDE1 gene and
Autistic Disorder
PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
rs8453 in
CSDE1;NRAS gene and
Autistic Disorder
PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
rs6891903 in
CTNND2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs6752370 in
DNER gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs1879532 in
ERBB4 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs2836439 in
ERG gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs2056412 in
FAM135B gene and
Autistic Disorder
PMID 22935194 2013 A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.
rs3797817 in
FER gene and
Autistic Disorder
PMID 22935194 2013 A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.
rs558269137 in
FLG;FLG-AS1 gene and
Autistic Disorder
PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
rs10205350 in
GALNT14 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs34002892 in
GNPTAB gene and
Autistic Disorder
PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
PMID 20880125 2011 Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
PMID 25606425 2014 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
rs11211996 in
GUCY1A2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs600695 in
LAMA1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs2000813 in
LIPG gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs9608521 in
LOC105372976 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs10185592 in
LOC105373847 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs6879627 in
LOC105374618 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs7711337 in
LOC105377698 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs1930165 in
LOC105378311;PCDH15 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs841361 in
LOC105378860;SLC44A3-AS1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs4141463 in
MACROD2 gene and
Autistic Disorder
PMID 20663923 2010 A genome-wide scan for common alleles affecting risk for autism.
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs14135 in
MACROD2;MACROD2-AS1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs10942147 in
MSNP1 gene and
Autistic Disorder
PMID 19404256 2009 Common genetic variants on 5p14.1 associate with autism spectrum disorders.
rs4761371 in
NAV3 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs1429793 in
NELL1;LOC105376585 gene and
Autistic Disorder
PMID 22935194 2013 A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.
rs4675502 in
PARD3B gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs7122539 in
PC gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs11587400 in
PKMP1 gene and
Autistic Disorder
PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
rs1555144459 in
PKP2 gene and
Autistic Disorder
PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.
PMID 15489853 2004 Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
PMID 22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
rs113994098 in
POLG gene and
Autistic Disorder
PMID 12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
PMID 19478085 2009 Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
rs1555453538 in
POLG;MIR6766 gene and
Autistic Disorder
PMID 23545419 2013 Clinical and molecular features of POLG-related mitochondrial disease.
PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.
PMID 20220442 2010 Polymerase gamma 1 mutations: clinical correlations.
rs9635542 in
PPL gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs1064793345 in
PTEN gene and
Autistic Disorder
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
rs836474 in
RAC1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs11118968 in
RASSF5 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs786205133 in
RLIM gene and
Autistic Disorder
PMID 25735484 2015 Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
rs7207517 in
RPH3AL gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs17134117 in
SDK1 gene and
Autistic Disorder
PMID 22935194 2013 A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.
rs12726299 in
SLC22A15 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs12194182 in
SLC22A3 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs6053022 in
SLC23A2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs9302952 in
SLC39A11 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs7910584 in
SORCS1 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs2150291 in
SYNE2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs4150167 in
TAF1C gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs16919315 in
TMEM132B gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs11102800 in
TRIM33 gene and
Autistic Disorder
PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
rs1064794254 in
UPF3B gene and
Autistic Disorder
PMID 22609145 2012 Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.
PMID 17704778 2007 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
PMID 19238151 2010 Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
rs263035 in
YEATS2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs263025 in
YEATS2-AS1;YEATS2 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs3782000 in
ZBTB16 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.
rs12331851 in
ZNF827 gene and
Autistic Disorder
PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.