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: C2875313
Disease: Severe [Duchenne] muscular dystrophy
Severe [Duchenne] muscular dystrophy 		disease Disease or Syndrome 1 0.100 None 1.000 10 1993 2018
CUI: C0699741
Disease: Benign congenital myopathy
Benign congenital myopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 1 0.200 None 1.000 2 1989 1995
CUI: C0267494
Disease: Chilaiditi Syndrome
Chilaiditi Syndrome 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0410165
Disease: X-linked muscular dystrophy with abnormal dystrophin
X-linked muscular dystrophy with abnormal dystrophin 		disease Disease or Syndrome 1 0.010 None < 0.001 1 1993 1993
CUI: C3844818
Disease: Attention Deficit Hyper Activity
Attention Deficit Hyper Activity 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4016476
Disease: DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE 		disease Finding 1 1 0.100 None 0 1
CUI: C4016477
Disease: INTERMEDIATE MUSCULAR DYSTROPHY
INTERMEDIATE MUSCULAR DYSTROPHY 		disease Finding 1 1 0.100 None 0 1
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0026851
Disease: Muscular Dystrophy, Animal
Muscular Dystrophy, Animal 		disease Animal Diseases Disease or Syndrome 2 0.300 None 1.000 1 2013 2013
CUI: C0039223
Disease: Tabes Dorsalis
Tabes Dorsalis 		disease Infections; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C0241705
Disease: Difficulty passing urine
Difficulty passing urine 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 2 1 0.010 None 1.000 1 2019 2019
CUI: C0948825
Disease: Systremma
Systremma 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2017 2017
CUI: C1540600
Disease: Cerebral seizure
Cerebral seizure 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2002 2002
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: 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 0.040 None 1.000 4 1992 1996
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase 		disease Disease or Syndrome 3 5 0.020 None 1.000 2 1994 2006
CUI: C0587044
Disease: Left ventricular thrombus
Left ventricular thrombus 		disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999
CUI: C1328551
Disease: Transfusion associated graft versus host disease
Transfusion associated graft versus host disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C0410214
Disease: Myopathy with Abnormal Lipid Metabolism
Myopathy with Abnormal Lipid Metabolism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2012 2012
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 1992 1992
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		phenotype Finding 4 1 0.100 None 0 1
CUI: C1998045
Disease: Subclinical hyperthyroidism
Subclinical hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 5 3 0.020 None 1.000 2 2020 2020
CUI: C0340434
Disease: Dystrophic cardiomyopathy
Dystrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 30 0.010 None 1.000 1 2016 2016
CUI: C3203509
Disease: Neuropsychiatric syndrome
Neuropsychiatric syndrome 		disease Disease or Syndrome 6 0.010 None 1.000 1 2020 2020