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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.040 GeneticVariation phenotype 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.040 Biomarker phenotype BEFREE ASD diagnosis was confirmed with the ADOS and ADI-R. With a cut-point of T ≥ 65, sensitivity was 80% for ASD, with specificity varying across groups: POP (0.93), DD-noAF (0.85), and DD-AF (0.50). 30739222 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.040 Biomarker phenotype BEFREE Our findings suggest an age-dependent association between emotion recognition and severity of social problems indicating a delayed development of emotional understanding in ASD. 29020059 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.040 Biomarker phenotype BEFREE In summary, our results showed that XHMM provided an effective means to assess small exonic CNV from whole-exome data, indicated that rare 1-30 kb exonic deletions could contribute to risk in up to 7% of individuals with ASD, and implicated a candidate pathway in developmental delay syndromes. 24094742 2013