TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Cerebellar lesion NOS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742035
Disease: Cerebellar lesion NOS
Cerebellar lesion NOS 		0.010 GeneticVariation disease BEFREE We provide new information regarding cerebellar lesions in tuberous sclerosis complex: cerebellar lesions are significantly much more frequent in patients with TSC2 mutations than TSC1 mutations or patients with no mutation identified, and Crus II is the most frequent location of cerebellar lesions. 28786492 2017