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: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.800 None 1.000 103 76 2001 2019
CUI: C0342853
Disease: Sialuria
Sialuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 17 0.760 strong 1.000 40 14 1989 2017
Inclusion Body Myopathy, Autosomal Recessive
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.540 None 1.000 5 2002 2005
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 31 18 0.370 strong 1.000 8 2002 2018
Sialic Acid Storage Disease, Finnish Type (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 47 44 0.360 None 1.000 6 1 2002 2017
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.310 None 0.500 2 2007 2015
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 84 5 0.310 None 1.000 2 2007 2015
Infantile Sialic Acid Storage Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 6 0.310 None 1.000 1 2003 2003
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 0.300 strong 1.000 1 2014 2014
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 21 4 2001 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.110 None 1.000 2 1 2014 2019
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
phenotype Finding 12 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement
phenotype Finding 5 2 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction
disease Finding 16 3 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
disease Anatomical Abnormality 10 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0