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: C3840252
Disease: Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma 		disease Neoplastic Process 12 0.020 None 1.000 2 2017 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2010 2018
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2008 2008
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0013691
Disease: Chylous effusion
Chylous effusion 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0205204
Disease: Scab
Scab 		disease Acquired Abnormality 24 0.010 None 1.000 1 2019 2019
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2016 2016
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 1 1 2016 2016
CUI: C0272401
Disease: Virchow's node (disorder)
Virchow's node (disorder) 		disease Sign or Symptom 30 1 0.010 None 1.000 1 2019 2019
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		disease Neoplastic Process 78 7 0.010 None 1.000 1 2012 2012
CUI: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.010 None 1.000 1 2017 2017
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva 		disease Neoplastic Process 30 2 0.010 None 1.000 1 2010 2010
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2016 2016
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 1.000 1 1 2016 2016
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.100 None 1.000 1 1 2016 2016
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype Finding 35 3 0.100 None 1.000 1 1 2016 2016
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2019 2019
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: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		disease Disease or Syndrome 11 14 0.010 None 1.000 1 2018 2018
CUI: C1321422
Disease: Monoblastic leukemia
Monoblastic leukemia 		disease Neoplastic Process 14 0.010 None 1.000 1 2013 2013
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 0.010 None 1.000 1 2018 2018
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2019 2019
CUI: C1509148
Disease: Sclerosing hemangioma
Sclerosing hemangioma 		disease Neoplastic Process 8 0.010 None 1.000 1 2008 2008
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None < 0.001 1 2016 2016