TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. 31005478 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. 29740858 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE TSC1 and TSC2 are the causative genes, and mental retardation, epileptic seizures, and facial angiofibroma develop in many patients with the disease. 29653868 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748). 29073472 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE Most individuals with TSC1 mutations fell on a normal distribution identical to the general population, with ∼10% showing profound ID. 26408672 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002). 24917535 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE We assessed the incidence and severity of mental retardation in the 13 sporadic patients with TSC1 mutations versus the entire sporadic cohort, and found no significant difference. 9924605 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group BEFREE The mechanism underlying the association of autism and TSC is as yet unclear but clinical features and neuroimaging investigations suggest that an abnormal TSC gene may directly influence the development of autism rather than it being a secondary effect of seizures or MR. 9813776 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 GeneticVariation group BEFREE We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC. 9328481 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.190 Biomarker group HPO