TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Clear-Cell Sugar Tumors ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2350234
Disease: Clear-Cell Sugar Tumors
Clear-Cell Sugar Tumors 		0.010 GeneticVariation disease BEFREE Here we report, for the first time to our knowledge, a patient with BHD syndrome who was complicated with a clear cell "sugar" tumor (CCST) of the lung, a benign tumor belonging to perivascular epithelioid cell tumors (PEComas) with frequent causative relation to tuberous sclerosis complex 1 (TSC1) or 2 (TSC2) gene. 27871249 2016