MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 765; N. variants: 17
Source: BEFREE ×
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: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 0.010 None 1.000 1 2017 2017
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections 		group Infections Disease or Syndrome 88 0.010 None 1.000 1 2019 2019
CUI: C0677898
Disease: invasive cancer
invasive cancer 		phenotype Neoplasms Neoplastic Process 146 15 0.010 None 1.000 1 2011 2011
CUI: C0079746
Disease: Immunoblastic Large-Cell Lymphoma
Immunoblastic Large-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 28 0.010 None 1.000 1 2011 2011
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 314 115 0.010 None 1.000 1 2018 2018
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 129 8 0.010 None 1.000 1 2017 2017
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 452 63 0.010 None 1.000 1 2012 2012
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 329 112 0.010 None 1.000 1 2019 2019
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2019 2019
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2019 2019
CUI: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth 		disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 119 1 0.010 None 1.000 1 2018 2018
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 5 0.010 None 1.000 1 2019 2019
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2010 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 128 15 0.010 None 1.000 1 2014 2014
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 58 32 0.010 None 1.000 1 2015 2015
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 0.010 None 1.000 1 2014 2014
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 129 16 0.010 None 1.000 1 2018 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 155 52 0.010 None 1.000 1 2019 2019
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 61 6 0.010 None 1.000 1 2019 2019
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		disease Cardiovascular Diseases Disease or Syndrome 57 3 0.010 None 1.000 1 2018 2018
CUI: C0700594
Disease: Radiculopathy
Radiculopathy 		disease Nervous System Diseases Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0042341
Disease: Varicocele
Varicocele 		disease Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 91 3 0.010 None 1.000 1 2019 2019
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 134 20 0.010 None 1.000 1 2018 2018
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 73 4 0.010 None 1.000 1 2019 2019
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019