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: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.300 None 1.000 1 2017 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.040 None 1.000 4 2002 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2018 2018
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.010 None 1.000 1 2019 2019
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia
disease Neoplastic Process 120 2 0.010 None 1.000 1 2017 2017
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None 1.000 1 2019 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2018 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2018 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2018 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2019 2019
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
disease Neoplastic Process 119 1 0.010 None 1.000 1 2017 2017
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2014 2014
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2014 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2018 2018
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 385 7 0.010 None 1.000 1 2017 2017
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 33 6 0.010 None 1.000 1 2017 2017