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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.030 None 1.000 3 1 2007 2019
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 21 2 0.100 None 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
phenotype Anatomical Abnormality 3 2 0.100 None 0 1
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.010 None 1.000 1 2013 2013
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.110 None 1.000 1 2013 2013
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
phenotype Injury or Poisoning 22 0.100 None 0
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy
disease Nervous System Diseases Disease or Syndrome 31 3 0.040 None 1.000 4 2010 2013
Acute encephalopathy with biphasic seizures and late reduced diffusion
disease Nervous System Diseases Disease or Syndrome 8 1 0.030 None 1.000 3 2012 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.030 None 0.667 3 2008 2012
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma
disease Neoplasms Neoplastic Process 101 3 0.020 None 0.500 2 2008 2012
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2012 2012
Adverse Event Associated with Cardiac Arrhythmia
phenotype Disease or Syndrome 42 5 0.020 None 1.000 2 2016 2018
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 2009 2018
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2009 2009
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.130 None 1.000 3 2006 2011
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 4 2005 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.530 None 1.000 4 1 2011 2018
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.110 None 1.000 1 2012 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.110 None 1.000 1 1 2009 2009
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
disease Nervous System Diseases Disease or Syndrome 17 8 0.010 None 1.000 1 2012 2012