UTRN, utrophin, 7402

N. diseases: 152; N. variants: 10
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: C0456702
Disease: Severe childhood autosomal recessive muscular dystrophy
Severe childhood autosomal recessive muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1994 1994
CUI: C3542021
Disease: Duchenne and Becker Muscular Dystrophy
Duchenne and Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 1997 1997
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 14 24 0.010 None 1.000 1 1994 1994
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		disease Digestive System Diseases Congenital Abnormality 19 1 0.010 None 1.000 1 2012 2012
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		phenotype Disease or Syndrome 20 6 0.010 None 1.000 1 2017 2017
CUI: C1443237
Disease: Healthcare associated pneumonia
Healthcare associated pneumonia 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2017 2017
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.020 None 1.000 2 2016 2018
CUI: C3158111
Disease: response to SSRI
response to SSRI 		phenotype Cell Function 28 53 0.100 None 1.000 1 2 2018 2018
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		phenotype Sign or Symptom 34 0.010 None 1.000 1 2019 2019
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2012 2012
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 0.010 None < 0.001 1 2009 2009
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.020 None 1.000 2 1998 2000
CUI: C0393642
Disease: Sepsis-Associated Encephalopathy
Sepsis-Associated Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 57 0.010 None 1.000 1 2018 2018
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.020 None 1.000 2 2013 2018
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.010 None 1.000 1 1995 1995
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.030 None 1.000 3 1993 1996
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 2017 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 94 32 0.010 None 1.000 1 2019 2019
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.010 None 1.000 1 2019 2019
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 2014 2014
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.060 None 1.000 6 2017 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2018 2018
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.010 None 1.000 1 2 2017 2017
CUI: C0920646
Disease: Ischemia of kidney
Ischemia of kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 131 0.020 None 1.000 2 2016 2018
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 1999 1999