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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.020 None 1.000 2 2018 2018
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2016 2016
CUI: C0205204
Disease: Scab
Scab
disease Acquired Abnormality 24 0.010 None 1.000 1 2019 2019
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33 0.010 None 1.000 1 2019 2019
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2018 2018
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2018 2018
Surgical incision wound (morphologic abnormality)
disease Wounds and Injuries Acquired Abnormality 10 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.020 None 1.000 2 2019 2019
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst
phenotype Neoplasms Anatomical Abnormality 38 0.010 None 1.000 1 2018 2018
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2012 2012
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2017 2017
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2017 2017
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity
disease Anatomical Abnormality 12 2 0.100 None 1.000 1 1 2016 2016
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2016 2016
Morphological abnormality of the central nervous system
group Anatomical Abnormality 10 7 0.100 None 1.000 1 1 2016 2016
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2017 2017
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology
disease Anatomical Abnormality 8 3 0.010 None 1.000 1 2017 2017
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.100 None 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow
phenotype Anatomical Abnormality 11 7 0.100 None 0 1
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.200 None 1.000 10 1 2015 2019
CUI: C2720434
Disease: Macroencephaly
Macroencephaly
disease Congenital Abnormality 22 3 0.090 None 1.000 9 1 2015 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.080 None 1.000 8 2009 2019