DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 1.000 strong 0.980 1125 152 1981 2020
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 0.800 strong 0.971 306 30 1984 2020
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.500 None 0.969 229 5 1988 2020
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 3 165 0.800 None 1.000 128 165 1992 2018
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 0.400 None 0.984 127 1987 2020
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0.977 87 6 2004 2020
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.100 None 0.951 81 1987 2020
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.100 None 0.949 39 1994 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0.933 30 2 2004 2020
CUI: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.400 limited 0.967 30 1986 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.400 None 0.905 21 1 1993 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.100 None 0.938 16 1996 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.200 None 0.938 16 1996 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.200 None 0.857 14 1994 2019
CUI: C0043046
Disease: Wasting Syndrome
Wasting Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 2 0.100 None 1.000 10 1992 2019
CUI: C2875313
Disease: Severe [Duchenne] muscular dystrophy
Severe [Duchenne] muscular dystrophy 		disease Disease or Syndrome 1 0.100 None 1.000 10 1993 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.090 None 1.000 9 1 2009 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.080 None 0.875 8 1991 2011
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.180 None 1.000 8 2013 2019
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 0.070 None 1.000 7 1 1992 2000
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.070 None 1.000 7 1991 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.060 None 1.000 6 2002 2019
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.060 None 1.000 6 1996 2007
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.050 None 1.000 5 2013 2019
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.050 None 1.000 5 1 1995 2018