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.
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: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.120 None 1.000 2 2 2016 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 2 2 2016 2019
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: 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: C0332615
Disease: Myopathic facies
Myopathic facies
phenotype Finding 44 15 0.100 None 1.000 1 1 2016 2016
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: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE
phenotype Finding 1 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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 1.000 1 1 2016 2016
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
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 1.000 1 1 2016 2016
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 1.000 1 1 2016 2016
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 1.000 1 1 2016 2016
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 1.000 1 1 2016 2016
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 1.000 1 1 2016 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 1.000 1 1 2016 2016
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 1.000 1 1 2016 2016
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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval
phenotype Pathologic Function 25 1 0.100 None 1.000 1 1 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: 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: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 1.000 1 1 2016 2016