SCO1, synthesis of cytochrome C oxidase 1, 6341

N. diseases: 71; N. variants: 5
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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.520 strong 1.000 4 2007 2019
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 8 0.300 None 1.000 3 2000 2013
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.020 None 1.000 2 2000 2001
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.020 None 1.000 2 1991 1993
Mitochondrial Respiratory Chain Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.300 None 1.000 1 2007 2007
CUI: C0033247
Disease: Proctocolitis
Proctocolitis
disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
Electron Transport Chain Deficiencies, Mitochondrial
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 None 1.000 1 2007 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2015 2015
CUI: C0030499
Disease: Parasitic Diseases
Parasitic Diseases
group Infections Disease or Syndrome 164 2 0.010 None 1.000 1 1996 1996
Oxidative Phosphorylation Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2007 2007
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2013 2013
CUI: C0747256
Disease: Parasitic infection
Parasitic infection
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 39 0.010 None 1.000 1 1996 1996
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.300 None 1.000 1 2010 2010
CUI: C0398703
Disease: Immunoglobulin G3 deficiency
Immunoglobulin G3 deficiency
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
disease Disease or Syndrome 23 2 0.010 None 1.000 1 2017 2017
CUI: C0398704
Disease: Immunoglobulin G4 deficiency
Immunoglobulin G4 deficiency
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
Infantile encephalopathy AND lactic acidosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2010 2010
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2010 2010
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 1991 1991
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 1996 1996
CUI: C0000833
Disease: Abscess
Abscess
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1 0.010 None 1.000 1 1996 1996
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.300 None 1.000 1 2013 2013
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 1991 1991
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2017 2017