DMD, dystrophin, 1756

N. diseases: 299; N. variants: 381
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 189 353 1.000 0.969 824 350 1982 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.900 strong 0.938 35 1993 2016
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 42 191 0.800 0.970 283 191 1984 2018
Dmd-Associated Dilated Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 2 122 0.700 1.000 38 122 1993 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 202 29 0.500 0.963 247 1985 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.500 0.906 36 1 1993 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 338 30 0.500 0.870 25 1 1987 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.500 strong 0.923 13 1991 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 220 7 0.500 1 2011 2011
Duchenne and Becker Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 0.400 0.971 78 1987 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 92 31 0.400 strong 0.947 19 1989 2015
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 387 121 0.400 0.941 18 1 1994 2014
Congenital muscular dystrophy (disorder)
disease Disease or Syndrome 66 10 0.340 strong 1.000 4 1996 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.330 1.000 4 2011 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 75 18 0.330 1.000 3 1999 2010
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 88 0.310 1.000 4 2007 2011
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 90 5 0.310 1.000 2 2010 2014
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.310 1.000 1 2014 2014
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 91 0.300 3 2007 2011
CUI: C0026851
Disease: Muscular Dystrophy, Animal
Muscular Dystrophy, Animal
disease Animal Diseases Disease or Syndrome 2 0.300 1 2013 2013
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 77 8 0.300 1 2013 2013
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 165 0.300 1 2011 2011
CUI: C0027540
Disease: Necrosis
Necrosis
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 56 0.300 1 2013 2013
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 113 3 0.300 1 2014 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 525 181 0.300 1 2011 2011