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Genes (115)
Species: human : 115 | |
Human | ARX | 170302 | aristaless related homeobox | These findings indicate that mutations in the ARX gene are very rare in autism | Human | DYX1C1 | 161582 | dyslexia susceptibility 1 candidate 1 | Thus it seems unlikely that DYX1C1 gene would be involved in the genetic etiology of autism in Finnish patients | Human | TPH2 | 121278 | tryptophan hydroxylase 2 | TPH2 gene variants are unlikely to contribute to autism or to the presence/absence of prominent repetitive behaviors in our sample, although an influence on the intensity of these behaviors in autism cannot be excluded TPH2 may play a modest role in autism susceptibility It appears unlikely that the TPH1 and TPH2 genes play a significant role in the susceptibility to autism or to autism endophenotypes including severe obsessive-compulsive behaviors and self-stimulatory behaviors | Human | AGAP1 | 116987 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism | Human | FOXP2 | 93986 | forkhead box P2 | Findings suggest that the FOXP2 gene may be involved in the pathogenesis of autism in Chinese population FOXP2 is not a major susceptibility gene for autism or specific language impairment Title:Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.|Association:Y|Conclusion:Our results may suggest a relationship between autism and the FOXP2 gene or a gene located nearby. Title:Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.|Association:Not Found|Conclusion:We identified four silent polymorphisms that were equally distributed between patients and controls. | Human | CPA5 | 93979 | carboxypeptidase A5 | mutation screening and imprinting analysis of candidate genes for autism in the 7q12 region | Human | CADPS2 | 93664 | Ca++-dependent secretion activator 2 | Gemetic disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility Results from Cadps2-deficient mice and human data suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autistic-like cellular and behavioral phenotypes | Human | SHANK3 | 85358 | SH3 and multiple ankyrin repeat domains 3 | Haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing | Human | MLPH | 79083 | melanophilin | deletion 2q37.3 is implicated in autism | Human | WNK3 | 65267 | WNK lysine deficient protein kinase 3 | Xp11.22 deletion including genes PHF8, FAM120C and WNK3 may be involved in the pathogenesis of autism | Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | Screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome | Human | ROBO3 | 64221 | roundabout, axon guidance receptor, homolog 3 (Drosophila) | Four SNPs of ROBO3 showed associations with autism | Human | NLGN4X | 57502 | neuroligin 4, X-linked | Click here to display 6 evidence detail records. | Human | ATP10A | 57194 | ATPase, class V, type 10A | In the analysis of a four-marker haplotype located in ATP10C, a statistically significant difference was observed in the frequency of one haplotype between male autism patients and controls | Human | RBFOX1 | 54715 | RNA binding protein, fox-1 homolog (C. elegans) 1 | A2BP1 may affect susceptibility or cause autism in a subset of patients | Human | ROBO4 | 54538 | roundabout, axon guidance receptor, homolog 4 (Drosophila) | One SNP of ROBO3 showed association with autism | Human | NLGN3 | 54413 | neuroligin 3 | Relatively higher cognitive abilities than classic autism No structural variants were found in the NLGN3 gene when 96 unrelated patients with autism, 24 ADHD and 24 bipolar disorder patients were analyzed Syntrophin-gamma2 (SNTG2) is a de novo binding partner of neuroligin 3, which correlates with autism-related mutations Splice variants of the NLGN3 gene are associated with autism | Human | SNTG2 | 54221 | syntrophin, gamma 2 | A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations | Human | STK39 | 27347 | serine threonine kinase 39 | evidence for linkage and association between autism and loci within the 2q24-q33 region, including at STK39 | Human | DISC1 | 27185 | disrupted in schizophrenia 1 | The involvement of DISC1 gene in the etiopathogenesis of autism and Asperger syndrome | Human | NBEA | 26960 | neurobeachin | neurobeachin encoding gene is disrupted in a patient with a de novo translocation t(5;13) (q12.1;q13.2), idiopathic autism, and no family history of autism | Human | COPG2 | 26958 | coatomer protein complex, subunit gamma 2 | Mutation sscreening and imprinting analysis of candidate genes for autism in the 7q32 region | Human | CNTNAP2 | 26047 | contactin associated protein-like 2 | These results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures The proposed type 1 autism includes autism cases with the originally described premature stop codon CNTNAP2, along with other CNTNAP2 mutations Study identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility | Human | PHF8 | 23133 | PHD finger protein 8 | deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome and the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism | Human | NLGN4Y | 22829 | neuroligin 4, Y-linked | The coding sequences and splice junctions of the NLGN4Y gene were analyzed in 335 male samples (290 with autism and 45 with mental retardation) to analyze sequence variants in NLGN4Y that are associated with autism or mental retardation |
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