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.
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 2018 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2018 2018
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.110 None 1.000 1 2018 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2018 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2018 2018
Congenital cytomegalovirus infection
disease Infections Disease or Syndrome 29 7 0.010 None 1.000 1 2018 2018
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2018 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.030 None 1.000 3 2017 2018
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 2017 2020
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.020 None 1.000 2 2017 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2017 2017
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2017 2017
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.020 None 1.000 2 2016 2017
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment
phenotype Disease or Syndrome 9 0.010 None 1.000 1 2016 2016
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2016 2016
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 282 21 0.010 None 1.000 1 2016 2016
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2016 2016
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2016 2016
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
disease Nervous System Diseases Disease or Syndrome 179 65 0.010 None 1.000 1 2016 2016