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: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 1.000 1 1 2018 2018
CUI: C1970117
Disease: Tooth Agenesis, Selective, With Orofacial Cleft
Tooth Agenesis, Selective, With Orofacial Cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 5 8 0.100 None 1.000 1 1 2018 2018
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.100 None 1.000 1 1 2018 2018
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 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
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
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C0268024
Disease: Hyperkalemia, diminished renal excretion
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: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 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: C0742747
Disease: High-output congestive heart failure
High-output congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4531203
Disease: Cardiomyocyte mitochondrial proliferation
Cardiomyocyte mitochondrial proliferation 		phenotype Finding 2 0.100 None 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		phenotype Finding 27 0.100 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: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C4023104
Disease: Intermittent painful muscle spasms
Intermittent painful muscle spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C4021553
Disease: Periodic hypokalemic paresis
Periodic hypokalemic paresis 		disease Disease or Syndrome 9 0.100 None 0
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CUI: C3714697
Disease: AV Block Second Degree by ECG Finding
AV Block Second Degree by ECG Finding 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.100 None 0
CUI: C4024700
Disease: Elevated creatine kinase after exercise
Elevated creatine kinase after exercise 		phenotype Finding 7 0.100 None 0
CUI: C4022754
Disease: Episodic hypokalemia
Episodic hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0