COQ6, coenzyme Q6, monooxygenase, 51004

N. diseases: 15; N. variants: 9
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: C3553349
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6
COENZYME Q10 DEFICIENCY, PRIMARY, 6 		disease Disease or Syndrome 2 9 0.700 None 1.000 4 9 2011 2017
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.330 strong 1.000 5 2011 2019
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.330 strong 1.000 5 2011 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.310 None 1.000 1 2014 2014
CUI: C2931480
Disease: Neurofibromatosis, Type 3, mixed central and peripheral
Neurofibromatosis, Type 3, mixed central and peripheral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 15 0.300 None 1.000 1 2014 2014
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 1 2014 2014
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.130 None 1.000 3 2011 2020
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.120 None 1.000 2 1 2011 2020
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.120 None 1.000 2 2017 2018
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 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 0.030 None 1.000 3 2014 2020
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2018 2018
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2014 2014