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: C0410179
Disease: Scleroatonic muscular dystrophy
Scleroatonic muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 11 0.900 1.000 13 3 2002 2014
CUI: C1834674
Disease: Bethlem myopathy
Bethlem myopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 23 0.700 1.000 13 9 1997 2014
CUI: C4225336
Disease: DYSTONIA 27
DYSTONIA 27
disease Disease or Syndrome 1 6 0.600 1 6 2015 2015
Congenital muscular dystrophy (disorder)
disease Disease or Syndrome 66 10 0.400 strong 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.320 1.000 2 2017 2017
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 92 31 0.310 strong 1.000 1 2010 2010
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 strong 8 1998 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Congenital Abnormality 109 5 0.300 strong 1 2006 2006
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Disease or Syndrome 29 0.300 1 2017 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.300 1 2017 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2002 2002
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
disease Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 1 2009 2009
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 137 0.300 1 2009 2009
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 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: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.300 0
Congenital hereditary muscular dystrophy
disease Congenital Abnormality; Disease or Syndrome 1 0.200 1 2013 2013
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 414 99 0.140 1.000 5 2 2008 2014
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
phenotype Anatomical Abnormality 139 0.110 1.000 1 2003 2003
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 13 1 2001 2017
CUI: C1837407
Disease: Ankle contracture
Ankle contracture
phenotype Finding 15 0.100 0
Increased endomysial connective tissue
phenotype Anatomical Abnormality 6 0.100 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
phenotype Anatomical Abnormality 12 1 0.100 0
CUI: C1833142
Disease: contracture of elbow
contracture of elbow
phenotype Acquired Abnormality 47 0.100 0