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.
Increased hepatocellular lipid droplets
phenotype Finding 14 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
phenotype Finding 76 7 0.100 None 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.100 None 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 51 0.100 None 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 5 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
Cytochrome C oxidase-negative muscle fibers
phenotype Finding 24 1 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
Increased intramyocellular lipid droplets
phenotype Finding 27 0.100 None 0