TSC1, TSC complex subunit 1, 7248

N. diseases: 74; N. variants: 144
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: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 3 20 0.900 definitive 0.981 11 4 1990 2020
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 0.710 None 1.000 2 6 2002 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 15 0.700 strong 0.976 3 5 1998 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 0.690 definitive 1.000 19 128 1996 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 148 19 0.600 None 1.000 1 1995 2020
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 140 3 0.600 None 0.875 0 3 1999 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.500 None 0.933 1 2 1998 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 119 0.500 None 1.000 1 1995 2020
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 3 1 2008 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.400 None 0.958 2 1998 2019
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 6 7 0.400 None 1.000 1 2008 2008
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.400 None 1.000 1 2017 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 18 35 0.400 None 0.857 0 1999 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 141 41 0.400 None 0.875 0 1999 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.330 None 1.000 1 1998 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 24 6 0.330 None 1.000 1 2001 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.320 None 1.000 1 2011 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 27 0.310 None 1.000 1 2011 2016
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		group Nervous System Diseases Disease or Syndrome 25 0.310 None 1.000 1 2007 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 124 66 0.310 None 1.000 1 2008 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2002 2011
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 2 2002 2017
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 2 2002 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 2 2002 2017
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2002 2011