SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
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: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2018 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2009 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2011 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 1 2003 2003
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.010 None 1.000 1 2018 2018
CUI: C0349390
Disease: Non-fluent aphasia
Non-fluent aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2015 2015
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2006 2006
CUI: C0032586
Disease: Polyradiculopathy
Polyradiculopathy 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2008 2008
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 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 2018 2018
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.010 None 1.000 1 2010 2010
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2008 2008
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
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 2019 2019
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2010 2010
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 1992 1992
CUI: C0752130
Disease: Spinal Cord Ischemia
Spinal Cord Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 3 0.010 None < 0.001 1 1 2008 2008
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 1999 1999
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2013 2013
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 1993 1993
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.010 None 1.000 1 2006 2006
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 84 5 0.010 None 1.000 1 2013 2013
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2015 2015
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 13 0.010 None 1.000 1 2019 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None 1.000 1 1 2017 2017