SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
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: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		disease Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2003 2005
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		disease Eye Diseases Disease or Syndrome 3 6 0.700 strong 1.000 4 6 2013 2016
CUI: C4523900
Disease: Axonal edema
Axonal edema 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2002 2002
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		disease Disease or Syndrome 4 78 0.100 None 1.000 11 50 1999 2011
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		disease Disease or Syndrome 4 2 0.090 None 1.000 9 1 2001 2019
CUI: C0752107
Disease: Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inherited 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2013 2013
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2013 2013
CUI: C0752110
Disease: Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2013 2013
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
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 0.700 None 1.000 13 8 1999 2016
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2004 2004
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2008 2008
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		phenotype Finding 7 2 0.100 None 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 8 2 0.010 None 1.000 1 2010 2010
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 51 0.010 None 1.000 1 2019 2019
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		phenotype Finding 8 0.100 None 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease Disease or Syndrome 9 3 0.020 None 1.000 2 2000 2004
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		disease Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 11 0.010 None 1.000 1 2019 2019
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		phenotype Finding 10 0.100 None 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2004 2004