rs45517258, TSC2

N. diseases: 2
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705 1999
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 CausalMutation CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801 1998
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281 1997
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 GeneticVariation UNIPROT Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.800 CausalMutation CLINVAR