Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.300 Biomarker disease GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393 2019
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.300 Biomarker disease GENOMICS_ENGLAND The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. 29156220 2017