MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
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: C0039103
Disease: Synovitis
Synovitis
disease Musculoskeletal Diseases Disease or Syndrome 197 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 10 0.010 None 1.000 1 2019 2019
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections
group Infections Disease or Syndrome 88 0.010 None 1.000 1 2019 2019
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
disease Neoplasms Neoplastic Process 193 12 0.010 None 1.000 1 2007 2007
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: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2017 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2019 2019
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.010 None 1.000 1 2019 2019
CUI: C0751295
Disease: Memory Loss
Memory Loss
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 163 10 0.010 None < 0.001 1 2015 2015
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.010 None 1.000 1 2015 2015
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 196 76 0.010 None 1.000 1 2019 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2018 2018
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 45 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 130 71 0.010 None 1.000 1 2014 2014
CUI: C0039234
Disease: Tachycardia, Ectopic Atrial
Tachycardia, Ectopic Atrial
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
Hereditary hemorrhagic telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 81 0.010 None 1.000 1 2017 2017
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2019 2019
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia
disease Hemic and Lymphatic Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 2014 2014
CUI: C0855090
Disease: B-cell lymphoma refractory
B-cell lymphoma refractory
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.010 None 1.000 1 2017 2017
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2015 2015
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 2020 2020
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma
disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2015 2015
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections
group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.010 None 1.000 1 2019 2019
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 182 12 0.010 None 1.000 1 2017 2017