Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.410 GeneticVariation disease BEFREE Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome. 18001468 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.410 Biomarker disease CTD_human Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome. 18001468 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.410 CausalMutation disease CLINVAR