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: C0002622
Disease: Amnesia
Amnesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 158 10 0.010 None < 0.001 1 2015 2015
CUI: C1112324
Disease: Multifocal micronodular pneumocyte hyperplasia
Multifocal micronodular pneumocyte hyperplasia 		disease Disease or Syndrome 6 0.010 None < 0.001 1 2010 2010
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None < 0.001 1 2016 2016
CUI: C0751295
Disease: Memory Loss
Memory Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 130 10 0.010 None < 0.001 1 2015 2015
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		disease Neoplasms Neoplastic Process 113 5 0.010 None < 0.001 1 2010 2010
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 75 3 0.010 None < 0.001 1 2016 2016
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		disease Eye Diseases Disease or Syndrome 100 53 0.010 None < 0.001 1 2017 2017
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 452 26 0.020 None 0.500 2 2018 2020
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 421 15 0.030 None 0.667 3 2011 2018
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		disease Neoplasms Neoplastic Process 15 1 0.030 None 0.667 3 2017 2019
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 163 21 0.050 None 0.800 5 2015 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2255 155 0.100 None 0.833 12 2013 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.100 None 0.833 12 2013 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 584 47 0.060 None 0.833 6 2014 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.100 None 0.857 14 2013 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1409 62 0.070 None 0.857 7 2010 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 844 39 0.070 None 0.857 7 2010 2019
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 269 20 0.080 None 0.875 8 2010 2019
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 34 1 0.080 None 0.875 8 2012 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 200 2 0.270 None 0.875 6 2006 2019
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma 		disease Neoplasms Neoplastic Process 49 1 0.100 None 0.900 10 2008 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.100 None 0.917 12 2014 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 0.200 None 0.917 12 1 2013 2020
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.100 None 0.933 15 2006 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1673 96 0.100 None 0.933 15 2014 2019