COQ7, coenzyme Q7, hydroxylase, 10229

N. diseases: 33; N. variants: 3
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: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.020 None 1.000 2 2013 2015
Steroid resistant nephrotic syndrome of childhood
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.010 None 1.000 1 2013 2013
Steroid-resistant nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.010 None 1.000 1 2013 2013
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation
disease Congenital Abnormality 25 7 0.010 None 1.000 1 2 2017 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2009 2009
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.010 None 1.000 1 2018 2018