SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
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: C0339652
Disease: Vertical gaze palsy
Vertical gaze palsy
disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2014 2014
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding)
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2017 2017
CUI: C0029182
Disease: orbit (eye disorders)
orbit (eye disorders)
group Eye Diseases Disease or Syndrome 64 0.010 None 1.000 1 2019 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 203 49 0.010 None 1.000 1 2018 2018
CUI: C0432292
Disease: Familial expansile osteolysis
Familial expansile osteolysis
disease Musculoskeletal Diseases Congenital Abnormality 5 2 0.010 None 1.000 1 2007 2007
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2019 2019
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2018 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2018 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 1 2019 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2019 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2017 2017
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2012 2012
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2017 2017
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2017 2017
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2018 2018
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2019 2019
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.010 None 1.000 1 2018 2018
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.010 None 1.000 1 2019 2019
CUI: C0393571
Disease: Multiple System Atrophy
Multiple System Atrophy
phenotype Nervous System Diseases Pathologic Function 19 6 0.010 None 1.000 1 2007 2007
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2019 2019
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2019 2019
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2017 2017