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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.938 16 2 2002 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 13 3 2002 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.200 None 1.000 1 2002 2002
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 21 0.200 None 1.000 1 2002 2002
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0.955 22 2003 2020
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.380 None 0.800 9 7 2003 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2003 2003
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2003 2003
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2003 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.650 None 0.875 8 1 2004 2018
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.050 None 1.000 5 1 2004 2016
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.020 None 1.000 2 2004 2006
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2004 2004
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 0.010 None 1.000 1 2004 2004
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.100 None 1.000 11 2005 2020
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.390 None 0.800 10 2 2005 2020
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.030 None 1.000 3 2006 2007
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2006 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2006 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 2 2006 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 18 2 2007 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.180 None 1.000 8 2 2007 2019
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.050 None 0.800 5 2007 2019
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.040 None 1.000 4 1 2007 2018
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 67 0.020 None 0.500 2 1 2007 2012