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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.700 None 0.974 38 4 2009 2020
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.610 strong 1.000 1 1 2015 2015
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.600 None 0.938 97 10 2002 2019
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		disease Disease or Syndrome 2 9 0.600 None 1.000 28 9 2002 2016
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		disease Disease or Syndrome 2 20 0.600 None 1.000 13 20 2002 2015
CUI: C4310693
Disease: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET 		disease Disease or Syndrome 1 3 0.600 strong 0 3
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.450 None 0.857 7 1 2002 2018
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 13 4 0.400 None 1.000 6 1 2002 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.340 None 1.000 5 2013 2019
CUI: C0393554
Disease: Amyotrophic Lateral Sclerosis With Dementia
Amyotrophic Lateral Sclerosis With Dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 0.310 None 1.000 2 2009 2013
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.310 None 1.000 2 2013 2018
CUI: C2931290
Disease: Welander distal myopathy, Swedish type
Welander distal myopathy, Swedish type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2018 2018
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 1 2018 2018
CUI: C0543859
Disease: Amyotrophic Lateral Sclerosis, Guam Form
Amyotrophic Lateral Sclerosis, Guam Form 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2009 2009
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.210 None 1.000 2 2013 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.200 None 0.933 15 1 2009 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.200 None 0.857 14 1 2005 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2013 2013
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.200 None 1.000 1 2014 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.110 None 1.000 1 2019 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.110 None 1.000 1 2016 2016
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.110 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.981 52 1 1989 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 37 1999 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 36 1999 2019