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.
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
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
disease Finding 1 4 0.600 None 1.000 4 4 2007 2016
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 0.380 None 1.000 9 3 2006 2019
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
disease Disease or Syndrome 2 450 0.300 strong 0
CUI: C0393571
Disease: Multiple System Atrophy
Multiple System Atrophy
phenotype Nervous System Diseases Pathologic Function 19 6 0.300 None 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.200 None 1.000 1 2015 2015
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.200 None 1.000 1 2015 2015
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.130 None 1.000 3 2006 2018
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 1998 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.110 None 1.000 1 2015 2015
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0
CUI: C0264162
Disease: Camptocormia
Camptocormia
disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.100 None 0
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 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: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent
phenotype Musculoskeletal Diseases Finding 2 1 0.100 None 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position
disease Disease or Syndrome 26 2 0.100 None 0