TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.020 Biomarker disease BEFREE Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. 25355409 2015
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.020 Biomarker disease BEFREE According to this view, a TSC2 defect might confer a greater risk for early kidney failure or, possibly, a more rapid growth of a giant cell astrocytoma. 8824721 1996