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.
Dmd-Associated Dilated Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 3 165 0.800 None 1.000 128 165 1992 2018
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.100 None 1.000 36 1989 2019
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 0.100 None 1.000 29 1989 2019
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.100 None 1.000 16 1995 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
Severe [Duchenne] muscular dystrophy
disease Disease or Syndrome 1 0.100 None 1.000 10 1993 2018
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.080 None 1.000 8 2005 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.080 None 1.000 8 1994 2019
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.070 None 1.000 7 2005 2018
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 2005 2018
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: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 29 10 0.060 None 1.000 6 1997 2018
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
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: C1285162
Disease: Degenerative disorder
Degenerative disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 160 6 0.060 None 1.000 6 1992 2018
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
disease Endocrine System Diseases Disease or Syndrome 57 70 0.050 None 1.000 5 1988 2011
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.050 None 1.000 5 2014 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 83 47 0.340 None 1.000 5 1999 2010
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.050 None 1.000 5 1 1995 2018
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.050 None 1.000 5 2003 2012
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.050 None 1.000 5 1 2017 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.050 None 1.000 5 2014 2019