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: C0277799
Disease: Intermittent fever
Intermittent fever 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 2 0.100 None 0 2
CUI: C4476567
Disease: Reduced brain choline level by MRS
Reduced brain choline level by MRS 		phenotype Finding 3 3 0.100 None 0 2
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 7 2 0.100 None 0 2
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0 2
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype Finding 32 6 0.100 None 0 2
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0 2
CUI: C0032302
Disease: Mycoplasma pneumonia
Mycoplasma pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2019 2019
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.010 None 1.000 1 2019 2019
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0 2
CUI: C0013132
Disease: Drooling
Drooling 		phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0 2
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0 2
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0 2
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0 2
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 2
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.300 None 1.000 1 2011 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0 2
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.300 None 1.000 1 2011 2011
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0 2
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 1 2017 2017
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0