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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 12 3 2004 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 1.000 11 3 2004 2018
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.340 None 1.000 4 1 2009 2013
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.030 None 1.000 3 2011 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.030 None 1.000 3 2010 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.030 None 1.000 3 1 2011 2019
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.030 None 1.000 3 2010 2013
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.020 None 1.000 2 2010 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.120 None 1.000 2 2013 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.210 None 1.000 2 2006 2012
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.020 None 1.000 2 1 2005 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.120 None 1.000 2 1 2013 2018
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.020 None 1.000 2 2010 2018
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.200 None 1.000 2 2011 2012
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.020 None 1.000 2 2 2005 2015
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.200 None 1.000 1 2011 2011
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.110 None 1.000 1 2018 2018
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2011 2011
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.200 None 1.000 1 2007 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2011 2011
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.010 None 1.000 1 4 2017 2017
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.200 None 1.000 1 2012 2012
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2012 2012
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.010 None 1.000 1 1 2010 2010
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex 		disease Nervous System Diseases Disease or Syndrome 3 0.200 None 1.000 1 2019 2019