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: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.100 None 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT
disease Disease or Syndrome 6 5 0.100 None 0 1
CUI: C3697248
Disease: Short lower third of face
Short lower third of face
phenotype Finding 33 3 0.100 None 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
disease Disease or Syndrome 58 20 0.100 None 0 1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0 1
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0 1
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 5 3 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.100 None 0 1
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.100 None 0 2
Macular hypopigmented whorls, streaks, and patches
phenotype Finding 1 1 0.100 None 0 1
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 4 0.100 None 0 1
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity
phenotype Finding 8 6 0.100 None 0 1
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0 1
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
phenotype Finding 24 7 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0