TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.300 None 1.000 1 2008 2008
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.300 None 1.000 1 2008 2008
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 1.000 1 2009 2009
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		group Neoplasms Neoplastic Process 471 18 0.300 None 1.000 1 2015 2015
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 0.300 None 1.000 1 2008 2008
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.300 None 1.000 1 2008 2008
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2011 2011
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2015 2015
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 150 14 0.300 None 1.000 1 2017 2017
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2011 2011
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.300 None 1.000 1 2015 2015
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2011 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.300 None 1.000 1 2011 2011
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 345 10 0.300 None 1.000 1 2011 2011
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 1.000 1 2009 2009
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2017 2017
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 1 2008 2008
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2011 2011
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2017 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C3889261
Disease: Other License Status
Other License Status 		phenotype Finding 4 0.300 limited 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.200 None 0.971 139 4 1990 2020