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: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
disease Disease or Syndrome 1 7 0.720 strong 1.000 7 7 2015 2019
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back
phenotype Finding 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand
phenotype Finding 1 1 0.100 None 1.000 1 1 2016 2016
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: C0152207
Disease: Alternating Exotropia
Alternating Exotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
Macular hypopigmented whorls, streaks, and patches
phenotype Finding 1 1 0.100 None 0 1
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
disease Disease or Syndrome 1 0.300 strong 0
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: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly
phenotype Finding 2 1 0.100 None 1.000 1 1 2016 2016
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks
phenotype Finding 2 1 0.100 None 1.000 1 1 2016 2016
Extra-axial cerebrospinal fluid accumulation
phenotype Finding 2 1 0.100 None 1.000 1 1 2016 2016
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: C4476710
Disease: Delayed ability to sit
Delayed ability to sit
phenotype Finding 3 1 0.100 None 1.000 1 1 2016 2016
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 4 0.100 None 0 1
Focal Cortical Dysplasia of Taylor, Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
Focal Cortical Dysplasia of Taylor, Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger
phenotype Congenital Abnormality 3 0.100 None 0
Gastrointestinal stromal tumor of small intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
phenotype Finding 4 2 0.100 None 1.000 1 1 2016 2016
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay
disease Mental or Behavioral Dysfunction 4 4 0.100 None 1.000 1 1 2016 2016
Premature birth following premature rupture of fetal membranes
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 5 4 0.100 None 1.000 1 1 2016 2016