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.
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 12 0.800 0.929 26 10 2006 2017
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 10 0.710 1.000 33 10 2005 2017
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
disease Disease or Syndrome 1 1 0.700 1 1 2013 2013
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 3 0.600 1.000 34 1 2006 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.500 strong 0.950 21 3 2005 2017
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 23 143 0.430 1.000 5 1 2007 2014
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.340 1.000 5 2006 2008
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.310 strong 1.000 2 2011 2012
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 0.310 1.000 2 2007 2007
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 4 0.300 4 4 2005 2009
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2013 2013
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 15 0.300 1 2007 2007
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 36 11 0.300 1 2007 2007
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 28 34 0.300 1 2007 2007
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.300 limited 0
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 0.300 limited 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 7 0.300 strong 0
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.300 0
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 6 0.200 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 414 99 0.170 1.000 8 1 2007 2015
CUI: C0009917
Disease: Contracture
Contracture
group Musculoskeletal Diseases Anatomical Abnormality 165 7 0.110 1.000 1 2011 2011
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 336 11 0.110 1.000 1 2011 2011
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
disease Congenital Abnormality 129 4 0.110 1.000 1 2012 2012
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Disease or Syndrome 283 58 0.100 1.000 10 2 2007 2017
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 37 7 0.100 1 1 2015 2015