TFEB, transcription factor EB, 7942

N. diseases: 150; N. variants: 16
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: C4288080
Disease: UNC13D Deficiency
UNC13D Deficiency 		disease Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1337036
Disease: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 		disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 40 0.010 None 1.000 1 2017 2017
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 15 0.010 None 1.000 1 2018 2018
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 142 0.010 None 1.000 1 2018 2018
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 38 0.020 None 1.000 2 2019 2019
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2004 2004
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.010 None 1.000 1 2004 2004
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.010 None 1.000 1 2018 2018
CUI: C4316899
Disease: Cystinosis
Cystinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 32 27 0.020 None 0.500 2 2016 2017
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.370 None 1.000 9 2003 2019
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2019 2019
CUI: C0037023
Disease: Sialadenitis
Sialadenitis 		disease Stomatognathic Diseases Disease or Syndrome 42 0.010 None 1.000 1 2019 2019
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.010 None 1.000 1 2018 2018
CUI: C0857175
Disease: Postinfarction
Postinfarction 		disease Disease or Syndrome 49 1 0.010 None 1.000 1 2019 2019
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.020 None 1.000 2 2017 2017
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.010 None 1.000 1 2019 2019
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.010 None 1.000 1 2004 2004
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 73 48 0.010 None 1.000 1 2013 2013
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2016 2016
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.010 None 1.000 1 2013 2013
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 8 0.020 None 1.000 2 2018 2018
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.020 None 1.000 2 2012 2019
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		disease Neoplasms Neoplastic Process 114 3 0.020 None 1.000 2 2012 2019