Human | DAOA | 267012 | D-amino acid oxidase activator | genetic associations between the DAOA gene and autism spectrum disorders |
Human | NLGN4X | 57502 | neuroligin 4, X-linked | no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level Data indicate that coding mutations in neuroligin 4 are very rarely associated to autism spectrum disorders report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders |
Human | NLGN3 | 54413 | neuroligin 3 | no evidence for an involvement of NLGN3 and NLGN4X genetic variants with autism spectrum disorder on high functioning level report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders Data indicate that coding mutations in neuroligin 3 are very rarely associated to autism spectrum disorders |
Human | CADM1 | 23705 | cell adhesion molecule 1 | Two missense mutations, C739A(H246N) and A755C(Y251S), in the CADM1 gene of male Caucasian autism spectrum disorder patients and their family members were found |
Human | SLC6A4 | 6532 | solute carrier family 6 (neurotransmitter transporter), member 4 | No allelic HLA or 5-HTTLPR polymorphisms were specifically associated with autism spectrum disorders |
Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | We found that the A allele of PTGS2 rs2745557 was preferentially transmitted in ASDs (p < 0.01) and that the GAAA haplotype was significantly associated with autism spectrum disorders (p < 0.01) |
Human | PTEN | 5728 | phosphatase and tensin homolog | Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations PTEN mutations are a relatively infrequent cause of autism spectrum disorders with macrocephaly |
Human | RELN | 5649 | reelin | The reeln gene is no association with autism spectrum disorder in the Indian population |
Human | MIF | 4282 | macrophage migration inhibitory factor (glycosylation-inhibiting factor) | These results identify MIF as a possible susceptibility gene for autism spectrum disorder |
Human | MET | 4233 | met proto-oncogene | Altered expression of MET and related molecules suggests dysregulation of signaling that may contribute to altered circuit formation and function in autism spectrum disorder |
Human | MARK1 | 4139 | MAP/microtubule affinity-regulating kinase 1 | MARK1 was overexpressed in a prefrontal region in the brains of patients with Autism spectrum disorders |
Human | HOXA1 | 3198 | homeobox A1 | Mutations in HOXA1 resulting in abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder were identified |
Human | HLA-DRB1 | 3123 | | The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder |
Human | GABRB3 | 2562 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to autism spectrum disorders in the Korean population |
Human | EN2 | 2020 | engrailed homeobox 2 | An association between a cerebellar patterning gene and autism spectrum disorder suggests a role for EN2 as a susceptibility locus and supports a neurodevelopmental defect hypothesis in the etiology of autism |
Human | DRD1 | 1812 | dopamine receptor D1 | Preferential haplotype transmission of markers at the DRD1 locus and an increased frequency of a specific haplotype support the DRD1 gene as a risk gene for core symptoms of autism spectrum disorders in families having only affected males |
Human | DMPK | 1760 | dystrophia myotonica-protein kinase | Further studies are warranted to elucidate the molecular etiology causing neurodevelopmental symptoms such as autism spectrum disorder and mental retardation in myotonic dystrophy type 1 |
Human | DAO | 1610 | D-amino-acid oxidase | significant associations between the rs3918346 and rs3825251 SNPs of the DAO gene and boys with autism spectrum disorders |
Human | AVPR1A | 552 | arginine vasopressin receptor 1A | This study confirms an association between the AVPR1a gene and autism spectrum disorders and identifies a third microsatellite associated with autism spectrum disorders as well as haplotypes consisting of all three markers |
Human | ASMT | 438 | acetylserotonin O-methyltransferase | Two polymorphisms located in the acetylserotonin methyltransferase (ASMT)promoter were more frequent in autism spectrum disorders (ASD); analyses revealed a highly significant decrease in ASMT activity and melatonin level in individuals with ASD |
Human | APC | 324 | adenomatous polyposis coli | The genomic locus at APC is associated with autism spectrum disorder |