ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Here, we aimed to investigate differences in functional brain network integrity between traditional diagnostic categories (autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], typically developing [TD]) and carefully consider the impact of comorbid ASD and ADHD on functional brain network integrity in a sample adequately powered to detect large effects. 30708240 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Parents of 5- to 12-year-old children (half had been diagnosed with autism spectrum disorder [ASD] and half were typically developing) provided reports of the most significant marital conflict of the day and ratings of child behaviors problems on a daily basis for 14 days. 30407023 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Our data indicate that inherited methylation alterations detectable in blood DNA, due to either genetic or epigenetic defects, can affect gene expression and contribute to ASD susceptibility most likely in an additive manner, and implicate ERMN as a novel ASD gene. 27404287 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 AlteredExpression disease BEFREE These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of ASD genetic liability. 28070788 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE This review addresses the particular issues that attend gene discovery in neuropsychiatric and neurodevelopmental disorders and ASDs in particular, summarizes recent findings in human genetics broadly that are driving the reevaluation of the conventional wisdom regarding the allelic architecture of common psychiatric conditions, reviews selected discoveries in ASDs and their relevance to models of pathology, highlights the conceptual and practical issues raised by the observation of a convergence of ASD genetic risks with distinct psychiatric disorders, and considers the important interplay of studies of neurobiology and genetics in clarifying and extending our understanding of social disability syndromes. 22037497 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE The Weak Central Coherence account of autism spectrum disorders posits that individuals with ASD utilize a detail-oriented information processing bias. 30419259 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Predicting social impairment and ASD diagnosis in younger siblings of children with autism spectrum disorder. 19449096 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Participants included 100 preschoolers (M<sub>age</sub> = 4.73, 75% Male, 79% Hispanic) including 37 with autism spectrum disorder and attention-deficit/hyperactivity disorder (ASD+ADHD), 32 with ADHD-only, and 31 typically developing children. 30973019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE A total of 144 toddlers (40 typically developing, 58 with autism spectrum disorder [ASD], 46 with developmental delay [DD]) participated at 24 and 31 months. 28991358 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE The decision to collapse several related disorders into a single diagnosis of Autism Spectrum Disorder (ASD) generated significant controversy and debate. 29579688 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE The identification of new ASD genes can further explore the molecular basis of ASD. 28343847 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Autism Spectrum Disorder Decision Tree Subgroups Predict Adaptive Behavior and Autism Severity Trajectories in Children with ASD. 30511124 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. 31764985 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE To expand, analyze and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3<sup>tm2Gfng</sup> model, hereafter Shank3/F, Jiang's Shank3<sup>tm1Yhj</sup> model, hereafter Shank3/J and the Cacna1c deletion model. 28753255 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Identification of ASD risk genes with high penetrance will broaden the targets amenable to genetic testing; while the biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention. 22463983 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE A parent or legal guardian reported neurodevelopmental concerns in 4 domains (speech, learning and attentional difficulties, and autism spectrum disorder [ASD]) and completed the Personal Adjustment and Role Skills Scale to assess psychosocial adjustment. 31594858 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE Additionally, 22 participants (professionals, parents of children with ASD and adults with ASD) generated ideas for interventions using robot KASPAR in three co-creation sessions. 28685411 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. 22688012 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 Biomarker disease BEFREE No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. 28281129 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE In particular, AutismKB 2.0 highlights 5669 de novo SNVs/indels due to their significant contribution to ASD genetics and includes 789 mosaic variants due to their recently discovered contributions to ASD pathogenesis. 30339214 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.100 GeneticVariation disease BEFREE Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of <i>ANK2</i>, a high-confidence autism spectrum disorder (ASD) gene. 31285321 2019