TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.010 GeneticVariation disease BEFREE Various genetic disorders associated with learning and behavioural deficits, including TSC, Fragile X, Neurofibromatosis Type 1, Noonan and Leopard syndromes, are associated with abnormalities in TSC-mTOR signalling. 21243421 2011