TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Source: CURATED ×
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: C3889261
Disease: Other License Status
Other License Status 		phenotype Finding 4 0.300 limited 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.300 limited 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 6 7 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: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2008 2008
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 6 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 54 13 0.300 None 1.000 1 2008 2008
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		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 6 7 0.300 None 1.000 1 2008 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 124 66 0.320 None 1.000 1 2002 2008
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease Nervous System Diseases Disease or Syndrome 6 1 0.300 None 1.000 1 2008 2008
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 54 0.300 None 1.000 1 2008 2008
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 125 0.300 None 1.000 1 2009 2009
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 125 5 0.300 None 1.000 1 2009 2009
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 102 42 0.310 None 1.000 1 2005 2010
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 100 6 0.410 None 1.000 1 2005 2010
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 3 1 0.400 None 1.000 4 1998 2011
CUI: C1838327
Disease: Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic kidneys, severe infantile with tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2004 2011
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2011 2011
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 6 0.310 None 1.000 1 2005 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 27 0.300 None 1.000 1 2011 2011
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 1 2011 2011
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 83 17 0.300 None 1.000 1 2011 2011
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2011 2011
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 25 0.300 None 1.000 1 2011 2011