rs118203542, TSC1

N. diseases: 4
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 25900779 2015
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 20547222 2010
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987 2006
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
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
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. 9924605 1998
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. 9863590 1998
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607 1997