TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Adult Subependymal Giant Cell Astrocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		0.020 GeneticVariation disease BEFREE Patients with TSC2 mutations developed subependymal giant cell astrocytoma at a significantly younger age than individuals with TSC1 mutations. 24507694 2014
CUI: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
Adult Subependymal Giant Cell Astrocytoma 		0.020 GeneticVariation disease BEFREE We also briefly review two important advances in this area: the treatment of medulloblastomas in patients with mutations in the PTCH1 gene, and the discovery of deregulated mammalian target of rapamycin as a major oncogenic driver molecule in patients with TSC mutations and subependymal giant cell astrocytoma. 21042217 2010