TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 Biomarker disease GENOMICS_ENGLAND Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246 2017
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation disease UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 Biomarker disease GENOMICS_ENGLAND Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 19175396 2009
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 Biomarker disease HPO
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 CausalMutation disease CLINVAR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation disease CLINVAR