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: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 30 1.000 None 1.000 141 29 1989 2019
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 19 0.900 None 1.000 20 7 2001 2019
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
Paramyotonia Congenita (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 26 0.800 None 0.977 44 20 1992 2019
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 18 0.790 None 1.000 22 18 1993 2019
Hypokalemic Periodic Paralysis, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 15 0.730 None 1.000 16 15 1999 2019
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 0.640 None 1.000 6 4 2003 2016
CUI: C0027125
Disease: Myotonia
Myotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 0.620 None 1.000 4 2 1993 2008
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16
disease Disease or Syndrome 1 10 0.600 None 1.000 4 10 2003 2016
CUI: C0752355
Disease: Myotonia Fluctuans (disorder)
Myotonia Fluctuans (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 1 0.500 None 1.000 2 1 1993 1994
Hypokalemic periodic paralysis type 1
disease Disease or Syndrome 12 24 0.460 None 1.000 6 7 2004 2019
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 38 0.440 None 0.800 5 1 1992 2017
CUI: C0751359
Disease: Percussion Myotonia
Percussion Myotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.400 None 1.000 1 1993 1993
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.350 None 0.833 6 1992 2017
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.310 strong 1.000 1 2016 2016
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.310 None 1.000 1 2008 2008
Myasthenic Syndromes, Congenital, Slow Channel
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2003 2003
Hyperkalemic Periodic Paralysis Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1991 1991
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
disease Finding 2 6 0.300 None 1.000 1 2004 2004
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2003 2003
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 67 0.300 None 1.000 1 1992 1992
CUI: C0270959
Disease: Myotonia Levior
Myotonia Levior
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.300 None 1.000 1 1992 1992
Congenital Myasthenic Syndromes, Presynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2003 2003
CUI: C0751358
Disease: Myotonic Phenomenon
Myotonic Phenomenon
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.300 None 1.000 1 1993 1993
Paramyotonia Congenita Without Cold Paralysis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.200 None 1.000 12 3 2000 2019