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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 173 6669 0.400 None 0.929 1 2004 2020
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 3 20 1.000 definitive 0.980 14 16 1994 2020
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 15 0.800 strong 0.986 5 10 1998 2020
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 250 0.800 None 0.992 21 250 1995 2019
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 128 0.400 definitive 1.000 6 1994 2017
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: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 45 2 0.320 None 1.000 3 2001 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 40 6 0.400 None 1.000 3 2001 2019
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 24 0.700 None 1.000 3 10 2009 2017
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 2 2011 2017
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 2 2011 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 104 21 0.300 None 1.000 2 2011 2017
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 2 2011 2017
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 101 0.300 None 1.000 2 2011 2017
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 104 0.300 None 1.000 2 2011 2017
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 2 2011 2017
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 5 0.300 None 1.000 2 2011 2017
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 1 0.300 None 1.000 2 2011 2017