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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.040 None 1.000 4 2011 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.030 None 1.000 3 2011 2016
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.030 None 1.000 3 2019 2019
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.030 None 1.000 3 2001 2019
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2003 2003
CUI: C0751316
Disease: Acquired Meningomyelocele
Acquired Meningomyelocele
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality 4 0.300 None 1.000 1 2012 2012
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.050 None 1.000 5 1 2002 2010
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2006 2006
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2001 2009
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.020 None 1.000 2 2018 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.320 None 1.000 2 2 2012 2013
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.020 None 1.000 2 2015 2018
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.020 None 0.500 2 2017 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.010 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2010 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2015 2015
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2019 2019
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1983 1983
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: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2017 2017
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 2003 2003
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None 1.000 1 2009 2009
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.010 None 1.000 1 2019 2019