Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation group BEFREE While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, germline CACNA1D mutations are associated with a neurodevelopmental disorder characterized by a wide symptomatic spectrum, including autism spectrum disorder. 30465465 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 Biomarker group BEFREE Separately, CACNA1D has been found to be associated with BD and autism spectrum disorder, as well as cocaine dependence, a comorbid feature associated with psychiatric disorders. 28497380 2017