TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. 27493206 2016
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene. 9108092 1997
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281 1997
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. 8944308 1996
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN Molecular genetic basis of renal carcinogenesis in the Eker rat model of tuberous sclerosis (Tsc2). 7546221 1995
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0.400 Biomarker disease CLINGEN Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. 7972075 1994