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: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.200 None 1.000 10 3 2000 2019
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.140 None 1.000 4 1992 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.130 None 1.000 5 3 1999 2009
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.130 None 1.000 3 2013 2018
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.120 None 1.000 2 2009 2016
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.120 None 1.000 2 1995 1998
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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.110 None 1.000 3 3 2004 2017
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.110 None 1.000 1 2019 2019
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.110 None 1.000 1 2001 2001
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.110 None 1.000 1 2 2018 2018
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.100 None 1.000 12 2 1995 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 1 2000 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 3 3 2017 2019
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 1.000 2 2 2004 2008
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 1.000 2 2 2004 2008
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 1.000 2 2 2004 2008
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 4 2 0.100 None 1.000 2 2 2004 2008
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 1.000 2 2 2004 2008
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 1.000 2 2 2004 2008
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 1.000 2 2 2004 2008
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 1.000 2 2 2004 2008
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 1.000 2 2 2004 2008
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 2 2 2004 2008
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 1.000 2 2 2004 2008