TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Angiomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002992
Disease: Angiomatosis
Angiomatosis 		0.010 GeneticVariation disease BEFREE Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis. 19258292 2009