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: C0278184
Disease: Scanning speech
Scanning speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 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: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		phenotype Eye Diseases; Nervous System Diseases Finding 3 2 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 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: C1850069
Disease: Undetectable visual evoked potentials
Undetectable visual evoked potentials 		phenotype Finding 6 1 0.100 None 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		disease Anatomical Abnormality 18 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: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 0
CUI: C4023481
Disease: EEG with focal spikes
EEG with focal spikes 		phenotype Finding 4 0.100 None 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		phenotype Finding 46 3 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: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 2 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		phenotype Finding 34 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0