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: C1302778
Disease: Congenital lymphatic malformation
Congenital lymphatic malformation
0.010 GeneticVariation disease BEFREE Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation. 31505689 2020