TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE The sequence of progressively proliferative renal angiomyolipoma, facial angiofibroma, West syndrome and TSC2 gene mutations might be prognostic ominous factors. 23647917 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE Our findings confirm and supplement existing literature that TSC2 mutation is likely to be associated with a more severe, earlier presenting TSC phenotype, including infantile spasms. 24917535 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE Most of the patients with TSC2 mutations who developed infantile spasms exhibited subsequent epilepsy (13/14; 93%). 25498131 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE However, missense mutations located in the central region of TSC2 (exons 23-33) were associated with a significantly reduced incidence of IS. 22867869 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 Biomarker disease BEFREE A greater than expected ratio of TSC2 to TSC1 patients was observed across this IS population. 18801034 2009
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 Biomarker disease CTD_human Management of epilepsy in tuberous sclerosis complex. 18345974 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE In summary, increased tuber count is strongly associated with infantile spasms and a TSC2 gene mutation. 16417883 2005
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 GeneticVariation disease BEFREE Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. 11579436 2001
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.470 Biomarker disease HPO