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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 1 2017 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.100 None 0.941 17 2013 2020
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0.923 13 1999 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.050 None 1.000 5 2017 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.050 None 1.000 5 2016 2019
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.020 None 1.000 2 2010 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2013 2019
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.020 None 1.000 2 2017 2018
CUI: C1258666
Disease: Myxoid cyst
Myxoid cyst
disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 106 0.020 None 1.000 2 2018 2019
CUI: C0085648
Disease: Synovial Cyst
Synovial Cyst
disease Neoplasms Disease or Syndrome 87 0.020 None 1.000 2 2018 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.020 None 1.000 2 2019 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2013 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2013 2019
CUI: C0279530
Disease: Malignant Bone Neoplasm
Malignant Bone Neoplasm
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 125 0.010 None 1.000 1 2019 2019
CUI: C0242510
Disease: Drug usage
Drug usage
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21 0.010 None 1.000 1 2019 2019
CUI: C0234241
Disease: Indifference to pain
Indifference to pain
phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 2 0.010 None 1.000 1 2007 2007
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.010 None 1.000 1 2019 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2019 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2017 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.010 None 1.000 1 2008 2008
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis
disease Cardiovascular Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 2019 2019