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: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 3 0.710 1.000 9 3 2004 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.410 strong 1.000 1 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.330 strong 1.000 3 2008 2018
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 117 11 0.320 1.000 3 2008 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.130 1.000 3 2009 2012
Severe mental retardation (I.Q. 20-34)
disease Mental or Behavioral Dysfunction 223 19 0.120 1.000 2 2011 2012
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia
phenotype Nervous System Diseases Sign or Symptom 13 5 0.110 1.000 1 2012 2012
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response
phenotype Finding 11 1 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 116 2 0.100 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 0 1
CUI: C1848918
Disease: Increased startle response
Increased startle response
phenotype Finding 10 0.100 0
Intellectual disability, progressive
phenotype Finding 43 0.100 0
Exaggerated acoustic startle response
phenotype Finding 10 0.100 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.020 1.000 2 2008 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.010 1.000 1 2010 2010
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.010 1.000 1 2009 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.010 1.000 1 2010 2010
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 5 0.010 1.000 1 2008 2008
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 71 5 0.010 1.000 1 2011 2011
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 463 69 0.010 1.000 1 2009 2009