MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 86; N. variants: 26
Source: CLINVAR ×
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: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 19 0.740 strong 1.000 0 5 2015 2018
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		disease Disease or Syndrome 1 6 0.720 strong 1.000 0 6 2015 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 34 314 0.500 None 1.000 1 5 2003 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 66 0.500 None 0.983 1 7 2004 2020
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 22 115 0.500 None 0.967 1 5 2005 2019
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 4 0.500 limited 1.000 0 1 2009 2019
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 16 69 0.400 None 1.000 1 2 2008 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.200 None 0.957 0 3 2012 2020
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 8 0.160 None 1.000 2 4 2011 2019
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 11 0.140 None 1.000 1 1 2011 2019
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.110 None 1.000 1 2 2015 2016
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 17 19 0.110 None 1.000 1 1 2016 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 31 216 0.110 None 1.000 1 2 2010 2016
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 26 141 0.110 None 1.000 1 2 2012 2014
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 19 23 0.110 None 1.000 0 1 2018 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 6 0.110 None 1.000 0 1 2018 2018
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 21 22 0.110 None 1.000 0 1 2015 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 22 24 0.110 None 1.000 0 1 2017 2017
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		phenotype Finding 2 2 0.100 None 1.000 1 1 2016 2016
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 6 7 0.100 None 1.000 1 1 2016 2016
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 12 13 0.100 None 1.000 1 1 2016 2016
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 13 13 0.100 None 1.000 1 1 2016 2016
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 1.000 1 1 2016 2016
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 6 5 0.100 None 1.000 1 1 2016 2016
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		phenotype Finding 1 1 0.100 None 1.000 1 1 2016 2016