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: C0036572
Disease: Seizures
Seizures
0.030 Biomarker phenotype BEFREE To our knowledge, this is the first report of a case of a de novo variant of 7q31.32 duplication, showing dysmorphic anomalies and neurologic impairment including ASD and seizures. 31707317 2019
CUI: C0036572
Disease: Seizures
Seizures
0.030 Biomarker phenotype BEFREE Interestingly, rats bred to be seizure-prone (Fast), unlike those bred for seizure-resistance (Slow), naturally exhibit behaviors and physiology reminiscent of ADHD/ASD in humans, suggesting a fundamental link between seizure disposition and these developmental disorders. 19596053 2009
CUI: C0036572
Disease: Seizures
Seizures
0.030 GeneticVariation phenotype BEFREE This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. 18627038 2008