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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 Biomarker group BEFREE Seventy monolingual United States infants (41 Sibs ASD with no eventual ASD diagnosis and 29 infants with a typically developing older sibling -Sibs TD) and 40 monolingual Italian infants (20 ELGA without major cerebral damages, congenital malformations or sensory impairments and 20 full-term - FT infants, GA ≥ 37 weeks) were included. 31649572 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 Biomarker group 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