Disease: Autism Spectrum Disorders ×
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 		0.020 Biomarker disease BEFREE Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. 30519864 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE Although the involvement of the SCN1A and SCN2A genes encoding Na<sub>V</sub>1.1 and Na<sub>V</sub>1.2 channels in de novo ASD has previously been demonstrated, our study indicates the involvement of inherited SCN9A variants and partial loss-of-function of Na<sub>V</sub>1.7 channels in the etiology of rare familial ASD. 27956748 2018