Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Megalencephaly with cutis tri-color of the Blaschko-linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930C > T (p.Thr1977Ile) MTOR variant. 30569621 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group BEFREE To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). 31217257 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group BEFREE Recently, a double-blind phase III randomized clinical trial on patients with TSC related epilepsy, demonstrated that adjunctive treatment with mTOR inhibition is effective and safe in reducing focal drug resistant seizures.Expert commentary. mTOR signaling dysregulation represents a common pathogenic mechanism in a subset of malformations of cortical development, sharing histopathological and clinical features, including epilepsy, autism, and intellectual disability. 29338461 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group GENOMICS_ENGLAND Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group BEFREE Protein synthesis regulation via mammalian target of rapamycin complex 1 (mTORC1) signaling pathway has key roles in neural development and function, and its dysregulation is involved in neurodevelopmental disorders associated with autism and intellectual disability. mTOR regulates assembly of the translation initiation machinery by interacting with the eukaryotic initiation factor eIF3 complex and by controlling phosphorylation of key translational regulators. 25898924 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 GeneticVariation group BEFREE Our report brings the total number of families who harbor MTOR p.E1799K in association with megalencephaly and ID to three. 26542245 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker group HPO