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: C0751830
Disease: Gait Disorders, Neurologic
Gait Disorders, Neurologic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0751831
Disease: Gait, Frontal
Gait, Frontal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0751832
Disease: Gait, Widebased
Gait, Widebased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C1837728
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.010 None < 0.001 1 2014 2014
CUI: C1848922
Disease: Hexosaminidase alpha-Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2001 2001
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 28 0.010 None < 0.001 1 2012 2012
CUI: C1863052
Disease: ALZHEIMER DISEASE, FAMILIAL, 1
ALZHEIMER DISEASE, FAMILIAL, 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2011 2011
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1 2008 2008
CUI: C0086664
Disease: Myelocele
Myelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 5 1 0.300 None 1.000 1 2012 2012
CUI: C0282550
Disease: Persian Gulf Syndrome
Persian Gulf Syndrome 		disease Occupational Diseases Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0917814
Disease: Aphasia, Expressive
Aphasia, Expressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 2015 2015
CUI: C1527168
Disease: Bonnevie-Ullrich Syndrome
Bonnevie-Ullrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2014 2014
CUI: C3825276
Disease: Stereotyped behavior (Psychiatry)
Stereotyped behavior (Psychiatry) 		disease Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 2019 2019
CUI: C3840049
Disease: Dysexecutive syndrome
Dysexecutive syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 5 2 0.010 None 1.000 1 2017 2017
CUI: C0019054
Disease: Hemolysis (disorder)
Hemolysis (disorder) 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C0312854
Disease: Extravascular Hemolysis
Extravascular Hemolysis 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C1456865
Disease: Ureteral Calculi
Ureteral Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.300 None 1.000 1 2014 2014
CUI: C0270780
Disease: Degenerative myelopathy
Degenerative myelopathy 		disease Nervous System Diseases Disease or Syndrome 7 0.070 None 1.000 7 2013 2019
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C0521659
Disease: Motor Neuron Disease, Upper
Motor Neuron Disease, Upper 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs 		phenotype Sign or Symptom 7 1 0.010 None 1.000 1 2001 2001
CUI: C0036457
Disease: Scrapie
Scrapie 		disease Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2001 2001
CUI: C0154681
Disease: Anterior Horn Cell Disease
Anterior Horn Cell Disease 		disease Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 1 2006 2006
CUI: C0242497
Disease: Intestinal schistosomiasis
Intestinal schistosomiasis 		disease Infections Disease or Syndrome 8 0.300 None 1.000 1 2006 2006