| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | disease | BEFREE | We examined mutations of both TSC genes in 6 Japanese patients with TSC-LAM and 22 patients with sporadic LAM and identified six unique and novel mutations. | 11829138 | 2002 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Identification of tuberous sclerosis complex (TSC) gene mutations has fostered understanding of how brain lesions in TSC are formed. | 10534239 | 1999 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs. | 10205261 | 1999 | ||||
|
0.100 | Biomarker | disease | 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 | ||||
|
0.100 | Biomarker | disease | BEFREE | These data support the hypothesis that both the TSC genes act as tumour suppressors and that the manifestations of TSC in patients with germline TSC mutations rise from "second hit" somatic mutations inactivating the remaining normal copy of the TSC gene. | 8950679 | 1996 | ||||
|
0.100 | Biomarker | disease | BEFREE | The identification of the TSC1 gene on chromosome 9q, along with functional studies and mutational analyses of both TSC genes, will likely provide fascinating insights into the pathogenesis of TSC. | 7670658 | 1995 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Analysis of TSC-associated hamartomas has shown loss of heterozygosity for the regions of chromosomes 9 and 16 known to harbour TSC genes, consistent with the occurrence of somatic 'second-hit' mutations. | 7849741 | 1994 | ||||
|
0.100 | Biomarker | disease | BEFREE | Analysis of the basic genetic defect in tuberous sclerosis would be greatly expedited by definitive determination of the chromosomal location of the TSC gene or genes. | 2303253 | 1990 |