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.
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
disease Disease or Syndrome 1 16 0.700 strong 1.000 11 16 2011 2017
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 2 0.600 strong 1.000 3 2 2013 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.440 strong 1.000 7 2013 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.430 strong 1.000 3 2015 2017
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.410 strong 1.000 2 2015 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.340 None 1.000 5 2016 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.340 None 0.500 4 2003 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.330 None 1.000 4 2003 2013
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.320 None 1.000 3 1 2001 2013
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.310 None 1.000 2 2016 2017
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.310 None 1.000 2 2008 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 0.867 30 1 1994 2019
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 144 3 0.300 None 1.000 2 2005 2010
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.300 None 1.000 2 2005 2010
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0.300 None 1.000 2 2005 2010
CUI: C0234238
Disease: Ache
Ache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008
CUI: C0458259
Disease: Pain, Crushing
Pain, Crushing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008
CUI: C0458257
Disease: Pain, Splitting
Pain, Splitting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2016 2016
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 107 1 0.300 None 1.000 1 2016 2016
CUI: C0234230
Disease: Pain, Burning
Pain, Burning
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 56 0.300 None 1.000 1 2008 2008
CUI: C0393787
Disease: Secondary Trigeminal Neuralgia
Secondary Trigeminal Neuralgia
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0393786
Disease: Trigeminal Neuralgia, Idiopathic
Trigeminal Neuralgia, Idiopathic
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 126 61 0.300 None 1.000 1 2004 2004
CUI: C0234254
Disease: Radiating pain
Radiating pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 51 0.300 None 1.000 1 2008 2008