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.