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: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		disease Disease or Syndrome 1 6 0.700 None 1.000 4 6 2016 2019
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		phenotype Finding 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		phenotype Pathologic Function 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		disease Anatomical Abnormality 4 2 0.100 None 1.000 1 1 2016 2016
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		phenotype Finding 4 6 0.100 None 0 1
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 3 0.100 None 1.000 1 1 2016 2016
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 5 3 0.100 None 1.000 1 2 2016 2016
CUI: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 5 2 0.100 None 1.000 1 2 2016 2016
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 5 3 0.100 None 0 1
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		phenotype Finding 5 0.100 None 0
CUI: C4025572
Disease: Episodic flaccid weakness
Episodic flaccid weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 2 0.100 None 1.000 1 2 2016 2016
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 4 0.010 None 1.000 1 2019 2019
CUI: C0014347
Disease: Enterobacteriaceae Infections
Enterobacteriaceae Infections 		group Infections Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype Finding 14 24 0.100 None 0 1
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 None 1.000 1 1 2016 2016
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		phenotype Musculoskeletal Diseases Finding 17 1 0.100 None 1.000 1 1 2016 2016
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype Finding 18 27 0.100 None 1.000 1 2 2016 2016
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		phenotype Cell or Molecular Dysfunction 25 2 0.100 None 1.000 1 1 2016 2016
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		phenotype Pathologic Function 25 1 0.100 None 1.000 1 1 2016 2016
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		phenotype Finding 25 0.100 None 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 1.000 1 1 2016 2016
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0