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: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.400 None 1.000 48 1977 2017
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.100 None 1.000 40 1980 2017
Amyotrophic Lateral Sclerosis, Guam Form
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.330 None 1.000 28 1995 2019
Amyotrophic Lateral Sclerosis With Dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 0.300 None 1.000 25 1995 2019
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0.882 17 1980 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.100 None 0.882 17 1980 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.400 None 1.000 14 2001 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.100 None 1.000 11 1980 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.100 None 1.000 11 1991 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.560 None 0.778 9 1997 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.080 None 1.000 8 2001 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.080 None 1.000 8 2006 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.080 None 1.000 8 2001 2020
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.070 None 1.000 7 2002 2019
CUI: C0270780
Disease: Degenerative myelopathy
Degenerative myelopathy
disease Nervous System Diseases Disease or Syndrome 7 0.070 None 1.000 7 2013 2019
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.070 None 1.000 7 2011 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.350 None 0.833 6 1997 2018
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.350 None 1.000 6 2013 2019
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.430 None 1.000 6 2004 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.360 None 0.833 6 2004 2018
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis
disease Nervous System Diseases Disease or Syndrome 19 1 0.350 None 1.000 6 2005 2019
CUI: C0232197
Disease: Fibrillation
Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 118 8 0.060 None 0.833 6 2008 2020
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.060 None 1.000 6 2017 2020
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.150 None 1.000 5 1999 2020
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.050 None 1.000 5 2005 2019