SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
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: C4275073
Disease: Desmin related myopathy with Mallory body-like inclusions
Desmin related myopathy with Mallory body-like inclusions 		disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		phenotype Finding 2 3 0.100 None 0 3
CUI: C4025568
Disease: Type 1 and type 2 muscle fiber minicore regions
Type 1 and type 2 muscle fiber minicore regions 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding 2 0.100 None 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		phenotype Finding 3 0.100 None 0
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2007 2007
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		disease Musculoskeletal Diseases Acquired Abnormality 4 5 0.100 None 0 3
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		phenotype Finding 5 4 0.100 None 0 3
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		disease Musculoskeletal Diseases Acquired Abnormality 6 2 0.100 None 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal 		phenotype Finding 6 0.100 None 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		phenotype Finding 6 0.100 None 0
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 15 0.010 None 1.000 1 2007 2007
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		phenotype Finding 7 3 0.100 None 0 3
CUI: C4023918
Disease: Short hard palate
Short hard palate 		disease Anatomical Abnormality 7 4 0.100 None 0 3
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4 0.010 None 1.000 1 2007 2007
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 1.000 None 1.000 29 24 1999 2019
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 0 3
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		phenotype Finding 10 0.100 None 0
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 11 20 0.080 None 1.000 8 2002 2019
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		phenotype Sign or Symptom 14 9 0.100 None 0 3
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		phenotype Finding 14 0.100 None 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 14 0.100 None 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		phenotype Finding 14 0.100 None 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		phenotype Finding 14 0.100 None 0