Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 GeneticVariation group BEFREE Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. 27113213 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 GeneticVariation group BEFREE Recently, microduplication of chromosome 2q24.3 (containing eight genes including SCN2A, SCN3A, and the 3' end of SCN1A) was reported in a family with dominantly inherited neonatal seizures and intellectual disability. 22029951 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker group HPO