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: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.050 None 1.000 5 2013 2019
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2017 2017
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 13 0.010 None 1.000 1 2014 2014
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None < 0.001 1 2007 2007
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None < 0.001 1 2007 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2016 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 1
CUI: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C3844818
Disease: Attention Deficit Hyper Activity
Attention Deficit Hyper Activity
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.110 None 1.000 1 2012 2012
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
disease Neoplasms Neoplastic Process 80 17 0.020 None 1.000 2 2009 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.020 None 1.000 2 2017 2017
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2013 2013
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.010 None 1.000 1 2018 2018
CUI: C3203547
Disease: Axial spondyloarthritis
Axial spondyloarthritis
disease Musculoskeletal Diseases Disease or Syndrome 67 0.010 None 1.000 1 2018 2018
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0004604
Disease: Back Pain
Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.010 None 1.000 1 2020 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: 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: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.020 None 1.000 2 1996 2009
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0 1
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.020 None 1.000 2 1990 1990
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.020 None 1.000 2 2012 2013