| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. | 16981987 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. | 11112665 | 2001 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. | 10227394 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. | 10533067 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. | 9863590 | 1998 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. | 10363127 | 1998 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. | 9924605 | 1998 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. | 9803264 | 1998 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. | 9242607 | 1997 |