Source: CLINVAR ×
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 2 6 2016 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 15 0.120 None 1.000 1 2 2016 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.110 None 1.000 1 2 2016 2019
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 7 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: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 17 0.100 None 1.000 1 1 2016 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 36 46 0.100 None 1.000 1 1 2016 2016
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		phenotype Cell or Molecular Dysfunction 2 2 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: C0332615
Disease: Myopathic facies
Myopathic facies 		phenotype Finding 11 15 0.100 None 1.000 1 1 2016 2016
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 19 24 0.100 None 1.000 1 1 2016 2016
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		disease Anatomical Abnormality 2 2 0.100 None 1.000 1 1 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 89 118 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: C3807306
Disease: Acute rhabdomyolysis
Acute rhabdomyolysis 		phenotype Musculoskeletal Diseases Finding 1 2 0.100 None 1.000 1 2 2016 2016
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Finding 2 3 0.100 None 1.000 1 2 2016 2016
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 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 3 3 0.100 None 1.000 1 1 2016 2016
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 1 2016 2016
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 39 78 0.100 None 1.000 1 1 2016 2016
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 23 42 0.100 None 1.000 1 1 2016 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 14 17 0.100 None 1.000 1 1 2016 2016
CUI: C0009024
Disease: Clonus
Clonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 4 0.100 None 1.000 1 1 2016 2016
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 42 0.100 None 1.000 1 1 2016 2016