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: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 27 0.110 None 1.000 116 27 1989 2018
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: C3149517
Disease: LARYNGOSPASM, SEVERE NEONATAL EPISODIC
LARYNGOSPASM, SEVERE NEONATAL EPISODIC 		disease Disease or Syndrome 1 0.030 None 1.000 3 2010 2015
CUI: C0856123
Disease: Myotonia aggravated
Myotonia aggravated 		disease Disease or Syndrome 1 0.020 None 1.000 2 1993 2017
CUI: C3489447
Disease: Hyperkalemic Periodic Paralysis Type 2
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
CUI: C1858891
Disease: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS 		phenotype Finding 1 4 0.100 None 0 4
CUI: C1868619
Disease: Paramyotonia Congenita Without Cold Paralysis
Paramyotonia Congenita Without Cold Paralysis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4016868
Disease: PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4016869
Disease: MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4022682
Disease: Cold-sensitive myotonia
Cold-sensitive myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C4022684
Disease: Myotonia of the lower limb
Myotonia of the lower limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 1 0.100 None 0 1
CUI: C4022685
Disease: Myotonia of the jaw
Myotonia of the jaw 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C4022686
Disease: Myotonia of the face
Myotonia of the face 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 1 0.100 None 0 1
CUI: C4022691
Disease: Facial muscle hypertrophy
Facial muscle hypertrophy 		phenotype Finding 1 0.100 None 0
CUI: C4023179
Disease: Paradoxical myotonia
Paradoxical myotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4531172
Disease: Cold paresis
Cold paresis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 1 0.100 None 0
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
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: C0268445
Disease: Normokalemic Periodic Paralysis
Normokalemic Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.070 None 1.000 7 3 2002 2019
CUI: C2931139
Disease: Nondystrophic myotonia
Nondystrophic myotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2011 2018
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
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: C2750473
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 		disease Finding 2 6 0.300 None 1.000 1 2004 2004
CUI: C4021979
Disease: Muscular edema
Muscular edema 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 0.100 None 0
CUI: C4022683
Disease: Myotonia of the upper limb
Myotonia of the upper limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C4025281
Disease: Neonatal inspiratory stridor
Neonatal inspiratory stridor 		phenotype Finding 2 1 0.100 None 0