SOD2, superoxide dismutase 2, 6648

N. diseases: 285; N. variants: 1
Source: CURATED ×
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: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 4 0.300 None 1.000 1 2008 2008
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 17 160 0.300 None 1.000 1 2003 2003
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 332 0.300 None 1.000 1 2003 2003
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 0.300 None 1.000 1 2003 2003
CUI: C0041408
Disease: Turner Syndrome
Turner 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: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		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: 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: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 4 0.320 None 1.000 1 2012 2013
CUI: C0086664
Disease: Myelocele
Myelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 1 0.300 None 1.000 1 2012 2012
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: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 28 0.300 None 1.000 1 2006 2006
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 1 0.300 None 1.000 1 2006 2006
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 22 48 0.310 None 1.000 1 2001 2002
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 10 0.310 None 1.000 1 1999 1999
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 89 0.320 None 1.000 1 2005 2016
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2005 2005
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 13 7 0.300 None 1.000 1 2014 2014
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 997 0.300 None 1.000 1 2014 2014
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 9 0.300 None 1.000 1 2014 2014
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		disease Digestive System Diseases Disease or Syndrome 1 1 0.300 None 1.000 1 2001 2001
CUI: C0014868
Disease: Esophagitis
Esophagitis 		disease Digestive System Diseases Disease or Syndrome 3 0.310 None 1.000 1 2001 2001
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 88 0.300 None 1.000 1 2000 2000
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 17 3 0.300 None 1.000 1 2008 2008
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 88 9 0.330 None 0.750 1 2000 2008
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		disease Digestive System Diseases Disease or Syndrome 1 1 0.310 None 1.000 1 2001 2001