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: 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: 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: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		disease Disease or Syndrome 2 4 0.100 None 1.000 5 1 2002 2016
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: 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: C2931732
Disease: Familial Paget's disease of bone
Familial Paget's disease of bone 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.050 None 1.000 5 2003 2019
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		phenotype Musculoskeletal Diseases Finding 3 0.100 None 0
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: C1333294
Disease: ALK positive large B-cell lymphoma
ALK positive large B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2013 2013
CUI: C0037944
Disease: Spinal Stenosis
Spinal Stenosis 		disease Musculoskeletal Diseases Acquired Abnormality 6 0.010 None 1.000 1 2016 2016
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		phenotype Wounds and Injuries Finding 6 1 0.100 None 0
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: C1707544
Disease: Cutaneous Fibrous Histiocytoma, Epithelioid Variant
Cutaneous Fibrous Histiocytoma, Epithelioid Variant 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C1849485
Disease: Neuronal loss in the cerebral cortex
Neuronal loss in the cerebral cortex 		phenotype Finding 8 0.100 None 0
CUI: C0919974
Disease: Abulia
Abulia 		disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C1509147
Disease: Histiocytoma
Histiocytoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C1838320
Disease: Hyperorality
Hyperorality 		phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		phenotype Finding 10 1 0.100 None 0
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		disease Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
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: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		phenotype Finding 13 1 0.100 None 0
CUI: C4021799
Disease: Restrictive behavior
Restrictive behavior 		phenotype Mental or Behavioral Dysfunction 13 0.100 None 0