Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.110 Biomarker disease BEFREE Developmental profiling of ASD-related shank3 transcripts and their differential regulation by valproic acid in zebrafish. 27562614 2016
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). 30382442 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 GeneticVariation disease BEFREE Doing so represents a first step in evaluating whether ABRs yield potential for informing the etiology of ASD risk and/or ASD symptom profiles. 29603654 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE At the group-level, we observed weaknesses in the language skills of boys with <sub>n</sub>ASD relative to those with FXS (e.g., when considering raw score performance, standard score performance relative to nonverbal cognitive skills, frequency of talk in play), after controlling for nonverbal IQ and ASD symptom severity. 30783899 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE The research put forward that in individuals with ASD, while gluten-free/casein-free and ketogenic diets, camel milk, curcumin, probiotics, and fermentable foods can play a role in alleviating ASD symptoms, consumption of sugar, additives, pesticides, genetically modified organisms, inorganic processed foods, and hard-to-digest starches may aggravate symptoms. 28762296 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE Results revealed a pragmatic continuum with significantly better scores for HR-TD than HR-BAP or HR-ASD, and HR-BAP than HR-ASD. 30488153 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 GeneticVariation disease BEFREE In view of the high prevalence of familial occurrence of secundum ASD (10% of all ASD patients), we recommend screening all first degree relatives of ASD patients for cardiac, conduction and skeletal anomalies. 17462063 2007
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 GeneticVariation disease BEFREE To investigate possible correlates of generalised anxiety disorder (GAD) in young males with ASD, a test of the mediation effects of sensory features (SF) upon the association between ASD symptoms and GAD was conducted with 150 males aged 6 to 18 years. 30771129 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE Evidence supporting that gut problems are linked to ASD symptoms has been accumulating both in humans and animal models of ASD. 29274915 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. 27752029 2017
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 GeneticVariation disease BEFREE We aimed to develop and internally validate a scoring system, the adult spinal deformity surgical decision-making (ASD-SDM) score, to guide the decision-making process for ASD patients aged above 40 years. 31317308 2020
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker disease BEFREE Heart rate variability (HRV) has been separately shown to be associated with ASD symptomatology, psychological wellbeing and emotion regulation (ER) in specific samples consisting of either individuals with ASD, those without ASD, or combined. 30578793 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 AlteredExpression disease BEFREE One hundred children, aged 3-12 y, diagnosed as Autistic spectrum disorder; ASD (DSM-V) and 100 age and sex matched controls were studied. 31612302 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE Three novel mutations of PITX2 (4.7%) were identified among 64 patients with AR, IGD, IH, or ASD. 14985297 2004
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE These data suggest that mutations affecting conserved non-coding elements of PITX2 may constitute an important class of mutations in patients with ASD for whom the molecular cause of their disease have not yet been identified. 28911203 2017
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 GeneticVariation disease BEFREE We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions. 22569110 2012
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 GeneticVariation disease BEFREE The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. 20881294 2011
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 Biomarker disease BEFREE Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD. 30225942 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions. 22569110 2012
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. 30457409 2018
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 GeneticVariation disease BEFREE The aims of this study were to examine novel mutations in PITX2 and FOXC1 in Chinese patients with anterior segment dysgenesis (ASD) and to compare the clinical presentations of these mutations with previously reported associated phenotypes. 31341655 2019
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 GeneticVariation disease BEFREE Heterozygous PV in the PITX2 and FOXC1 genes accounted for 66% (6/9) of the ARS/ASD cases. 30457409 2018
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.060 GeneticVariation disease BEFREE Our findings support the role of FOXC1 mutations in the spectrum of ASD. 18498376 2008
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE Mutations in the homeobox transcription factor paired-like homeodomain transcription factor 2 (PITX2) cause Axenfeld-Reiger syndrome (ARS), which is associated with anterior segment dysgenesis (ASD) and glaucoma. 22919265 2012
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.060 GeneticVariation disease BEFREE The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. 20881294 2011