COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
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.
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
disease Finding 1 4 0.600 None 1.000 4 4 2007 2016
CUI: C4022677
Disease: Female anorgasmia
Female anorgasmia
disease Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C0749201
Disease: Orthostatic syncope
Orthostatic syncope
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent
phenotype Musculoskeletal Diseases Finding 2 1 0.100 None 0
CUI: C1868524
Disease: Autonomic erectile dysfunction
Autonomic erectile dysfunction
phenotype Nervous System Diseases Finding 2 0.100 None 0
CUI: C4022830
Disease: Heavy proteinuria
Heavy proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 2 0.100 None 0
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
disease Disease or Syndrome 2 450 0.300 strong 0
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1
disease Disease or Syndrome 3 6 0.700 None 1.000 13 5 2006 2018
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus
phenotype Eye Diseases; Nervous System Diseases Finding 3 2 0.100 None 0
CUI: C4023481
Disease: EEG with focal spikes
EEG with focal spikes
phenotype Finding 4 0.100 None 0
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction
disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C3825926
Disease: Nephrotic syndrome in children
Nephrotic syndrome in children
disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
Undetectable visual evoked potentials
phenotype Finding 6 1 0.100 None 0
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0264162
Disease: Camptocormia
Camptocormia
disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.100 None 0
CUI: C1839436
Disease: Severe lactic acidosis
Severe lactic acidosis
phenotype Nutritional and Metabolic Diseases Finding 8 1 0.100 None 0
CUI: C0423319
Disease: Atrophic iris
Atrophic iris
disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 11 1 0.100 None 0
CUI: C1850534
Disease: Edema, generalized
Edema, generalized
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 12 0.100 None 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia
disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 0.100 None 0
CUI: C0278184
Disease: Scanning speech
Scanning speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 4 0.010 None 1.000 1 2017 2017
Orthostatic hypotension due to autonomic dysfunction
phenotype Nervous System Diseases; Cardiovascular Diseases Finding 16 0.100 None 0