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: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		disease Disease or Syndrome 1 1 0.720 strong 1.000 2 1 2015 2019
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C0013691
Disease: Chylous effusion
Chylous effusion 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1260966
Disease: Central odontogenic fibroma
Central odontogenic fibroma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2018 2018
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
CUI: C0153886
Disease: Acute myeloid leukemia in remission
Acute myeloid leukemia in remission 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C1519714
Disease: Type II Endometrial Adenocarcinoma
Type II Endometrial Adenocarcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C4324689
Disease: Pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1335996
Disease: Gastrointestinal stromal tumor of small intestine
Gastrointestinal stromal tumor of small intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C2609093
Disease: Pancreatic neuroendocrine tumour metastatic
Pancreatic neuroendocrine tumour metastatic 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 5 2 0.010 None 1.000 1 2018 2018
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		disease Anatomical Abnormality 5 2 0.010 None 1.000 1 2017 2017
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 6 1 0.010 None 1.000 1 2018 2018
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C0238015
Disease: Autonomic Dysreflexia
Autonomic Dysreflexia 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2019 2019
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C4478701
Disease: Focal cortical dysplasia type IIb
Focal cortical dysplasia type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 0.020 None 1.000 2 2012 2015
CUI: C0011434
Disease: Dentin, Secondary
Dentin, Secondary 		disease Stomatognathic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2020 2020
CUI: C1509148
Disease: Sclerosing hemangioma
Sclerosing hemangioma 		disease Neoplastic Process 8 0.010 None 1.000 1 2008 2008
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C1332218
Disease: Adult Type Ovarian Granulosa Cell Tumor
Adult Type Ovarian Granulosa Cell Tumor 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 9 1 0.010 None 1.000 1 2012 2012
CUI: C1367420
Disease: Kaposiform Hemangioendothelioma
Kaposiform Hemangioendothelioma 		disease Neoplasms; Infections; Hemic and Lymphatic Diseases Neoplastic Process 10 0.020 None 1.000 2 2019 2020
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2015 2015
CUI: C1857355
Disease: Leigh syndrome , French Canadian type
Leigh syndrome , French Canadian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 10 2 0.010 None 1.000 1 2019 2019