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.
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
disease Finding 1 1 0.600 moderate 0 1
Malignant hyperthermia susceptibility type 5
disease Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.300 None 0
CUI: C0520878
Disease: Shortened PR interval
Shortened PR interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C0154143
Disease: Toxic multinodular goiter
Toxic multinodular goiter
disease Endocrine System Diseases Disease or Syndrome 7 3 0.100 None 0
Thyrotoxicosis with toxic single thyroid nodule
disease Endocrine System Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 38 12 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.100 None 0
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 56 13 0.100 None 0
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.100 None 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.100 None 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.100 None 0
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.100 None 0
Fatigable weakness of respiratory muscles
phenotype Finding 60 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
High-output congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.100 None 0 1
Hyperkalemia, diminished renal excretion
phenotype Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 6 0.100 None 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0