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: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.010 None 1.000 1 2019 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2018 2018
Gastroparesis with diabetes mellitus
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2018 2018
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2020 2020
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
phenotype Neoplasms Neoplastic Process 143 12 0.010 None 1.000 1 2017 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None 1.000 1 2019 2019
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 330 71 0.010 None 1.000 1 2017 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2019 2019
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder)
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.010 None 1.000 1 2017 2017
Metastatic malignant neoplasm to brain
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.010 None 1.000 1 2015 2015
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None 1.000 1 2019 2019
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin
disease Neoplasms Neoplastic Process 112 10 0.010 None 1.000 1 2019 2019
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.010 None 1.000 1 2003 2003
CUI: C0278505
Disease: Non-small cell lung cancer stage II
Non-small cell lung cancer stage II
disease Neoplastic Process 11 0.010 None 1.000 1 2004 2004
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 146 17 0.010 None 1.000 1 2013 2013
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.010 None 1.000 1 2020 2020
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 26 11 0.010 None 1.000 1 2018 2018
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy
phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2019 2019
Malignant neoplasm of adrenal cortex
disease Neoplasms; Endocrine System Diseases Neoplastic Process 60 1 0.010 None 1.000 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2014 2014
CUI: C0340293
Disease: Anterior myocardial infarction
Anterior myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2019 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
disease Eye Diseases Acquired Abnormality 102 0.010 None 1.000 1 2015 2015
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.010 None 1.000 1 2016 2016
CUI: C0280634
Disease: Adult Acute Monocytic Leukemia
Adult Acute Monocytic Leukemia
disease Neoplasms Neoplastic Process 70 0.010 None 1.000 1 2017 2017
CUI: C0279646
Disease: Childhood Acute Monocytic Leukemia
Childhood Acute Monocytic Leukemia
disease Neoplasms Neoplastic Process 70 0.010 None 1.000 1 2017 2017