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: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.080 None 0.875 8 2016 2019
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 0.020 None 1.000 2 2004 2005
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.020 None 1.000 2 2000 2015
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.020 None 1.000 2 2000 2015
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.020 None 1.000 2 1999 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.020 None 1.000 2 2010 2016
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.020 None 1.000 2 2000 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.020 None 1.000 2 1997 2005
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.010 None 1.000 1 2017 2017
Childhood Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 1993 1993
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.010 None 1.000 1 2010 2010
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 18 0.010 None 1.000 1 2005 2005
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 58 0.010 None 1.000 1 2010 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2013 2013
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2019 2019
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 1993 1993
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 42 5 0.010 None 1.000 1 2016 2016
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 1993 1993
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure
disease Anatomical Abnormality 46 0.010 None 1.000 1 2008 2008
CUI: C0872084
Disease: Sarcopenia
Sarcopenia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.010 None 1.000 1 2019 2019
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 121 8 0.010 None 1.000 1 1993 1993
CUI: C0206628
Disease: Mesoblastic Nephroma
Mesoblastic Nephroma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 0.010 None 1.000 1 2016 2016
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.010 None 1.000 1 2012 2012
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.010 None 1.000 1 2017 2017