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: 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 0.110 None 1.000 1 2019 2019
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder
disease Mental Disorders Mental or Behavioral Dysfunction 83 46 0.010 None 1.000 1 2 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
Epilepsy of infancy with migrating focal seizures
disease Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2017 2019
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
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.110 None 1.000 1 2017 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 1.000 2 2016 2017
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2016 2016
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2016 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None 1.000 1 2016 2016
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2016 2016
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.030 None 1.000 3 2014 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: C0030319
Disease: Panic Disorder
Panic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 2014 2014
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.010 None 1.000 1 2014 2014
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 100 110 0.010 None 1.000 1 1 2014 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
disease Disease or Syndrome 1 8 0.600 None 1.000 6 8 2013 2017
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.340 None 1.000 6 1 2013 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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2013 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 2013 2013
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.010 None 1.000 1 2013 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 25 2013 2013