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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2 2013 2014
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: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position
disease Disease or Syndrome 26 2 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0
Undetectable visual evoked potentials
phenotype Finding 6 1 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 59 1 0.100 None 0
CUI: C4022677
Disease: Female anorgasmia
Female anorgasmia
disease Mental or Behavioral Dysfunction 1 0.100 None 0
Abnormal brain FDG positron emission tomography
disease Anatomical Abnormality 18 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
Focal T2 hyperintense basal ganglia lesion
phenotype Finding 46 3 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: 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
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 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: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0