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: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2019 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 2019 2019
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2019 2019
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.010 None 1.000 1 2019 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None 1.000 1 2019 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.010 None 1.000 1 2019 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2019 2019
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2019 2019
Refractory Acute Lymphoblastic Leukemia
disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.110 None 1.000 1 2018 2018
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.020 None 1.000 2 2017 2017
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2017 2017
CUI: C1306068
Disease: After-cataract
After-cataract
disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2017 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2017 2017
Congenital anomaly of gastrointestinal tract
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 3 2 0.010 None 1.000 1 2017 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.310 strong 1.000 2 1 2016 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.110 None 1.000 1 1 2015 2015
Childhood Pre-B Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 3 0.010 None 1.000 1 2015 2015
Familial Atypical Mole Melanoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.300 None 1.000 1 2015 2015