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: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
Sleep Initiation and Maintenance Disorders
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 15 26 0.300 None 1.000 1 2002 2002
CUI: C0033139
Disease: Primary Insomnia
Primary Insomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 7 2 0.300 None 1.000 1 2002 2002
CUI: C0270541
Disease: Rebound Insomnia
Rebound Insomnia
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 4 0.300 None 1.000 1 2002 2002
CUI: C0349255
Disease: Nonorganic Insomnia
Nonorganic Insomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.300 None 1.000 1 2002 2002
CUI: C0393759
Disease: Transient Insomnia
Transient Insomnia
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 4 0.300 None 1.000 1 2002 2002
CUI: C0541798
Disease: Early Awakening
Early Awakening
phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 1 0.300 None 1.000 1 2002 2002
CUI: C0751249
Disease: Chronic Insomnia
Chronic Insomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 6 3 0.300 None 1.000 1 2002 2002
CUI: C0751250
Disease: Psychophysiological Insomnia
Psychophysiological Insomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 5 0.300 None 1.000 1 2002 2002
CUI: C0751251
Disease: Secondary Insomnia
Secondary Insomnia
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 4 0.300 None 1.000 1 2002 2002
CUI: C0751252
Disease: Sleep Initiation Dysfunction
Sleep Initiation Dysfunction
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.300 None 1.000 1 2002 2002
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.300 None 1.000 1 2002 2002
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.500 None 0.917 12 3 1999 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.390 None 1.000 11 2 1998 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 11 1 2008 2017
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 33 13 0.400 None 0.900 10 3 1999 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.150 None 1.000 5 2 2013 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.030 None 1.000 3 2014 2019
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.020 None 1.000 2 1 2003 2011
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 1.000 2 2016 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2005 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 2 2005 2018
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.020 None 1.000 2 1 2007 2010
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 74 46 0.020 None 1.000 2 1 1997 2005